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Panel Name, Specifity and genes Tested/covered |
Abnormal/Ambiguous Genitalia Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11
Specificity
2 %
Genes
100 %
|
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)
View the complete list with 187 more genes
ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8
Specificity
1 %
Genes
100 %
|
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)
View the complete list with 138 more genes
ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ARL6, FBXL4, WDR11, ZEB2, CBX2, SETBP1, PROKR2, TOE1, TP63, PCNT, TRIM32, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, PSMC3IP, ARX, HHAT, PROK2, GRIP1, BBS7, FRAS1, CHD4, EVC2, TTC8, B3GLCT, CHD7, TWIST2, BCOR, CUL7, ICK, MCM9, RSPO1, LHX4, WDR60, FEZF1, FAT4, CREBBP, FREM2, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, BBS12, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DYNC2H1, DNMT3B, NSMF, BBS9, TRAIP, BNC2, EFNB1, EVC, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, AKR1C4, FSHB, FSHR, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, POR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8
Specificity
1 %
Genes
100 %
|
Ambiguous Genitalia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)
View the complete list with 65 more genes
ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, SETBP1, PROKR2, TOE1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, CHD4, B3GLCT, CHD7, TWIST2, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DMRT1, DYNC2H1, DNMT3B, NSMF, TRAIP, FGFR1, AKR1C4, GATA4, GNRHR, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD17B4, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11
Specificity
2 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company (Germany).
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)
View the complete list with 487 more genes
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET
Specificity
1 %
Genes
100 %
|
New Born testing (CentoICU).
By Centogene AG - the Rare Disease Company (Germany).
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)
View the complete list with 487 more genes
RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET
Specificity
1 %
Genes
100 %
|
Sudden infant death with dysgenesis of the testes syndrome.
By Centogene AG - the Rare Disease Company (Germany).
TSPYL1
Specificity
100 %
Genes
100 %
|
qGenEx Sex development disorders.
By Quantitative Genomic Medicine Laboratories, SL (Spain).
ROR2, SOX3, SOX9, SRD5A2, SRY, STAR, CEP41, TSPYL1, WNT4, WT1, CBX2, ZFPM2, ARX, GRIP1, FRAS1, RSPO1, WDR60, B9D1, TCTN3, FREM2 , (...)
View the complete list with 28 more genes
ROR2, SOX3, SOX9, SRD5A2, SRY, STAR, CEP41, TSPYL1, WNT4, WT1, CBX2, ZFPM2, ARX, GRIP1, FRAS1, RSPO1, WDR60, B9D1, TCTN3, FREM2, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR7, DHH, DMRT1, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, RIPK4, HOXA13, HSD17B3, HSD3B2, AR, LHCGR, MAP3K1, MKKS, NEK1, NR0B1, NR3C1, NR5A1, ATRX, POR
Specificity
3 %
Genes
100 %
|
You can check the following sources for additional information.