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Syndromale geslachtelijke ontwikkelingsstoornissen DSD01v21.1
124 genen
Genpanel dekking 15X: 99.1 %
124 genen
Genpanel dekking 15X: 99.1 %
DSD01v21.1
06-07-2023
FGFR1
CHD7
ZFPM2
CYP11B1
DMRT1
DMRT2
ROR2
HSD17B3
NR5A1
SOHLH1
LHX3
NSMF
AKR1C2
AKR1C4
SGPL1
C10orf2
FGF8
CYP17A1
WDR11
FGFR2
SYCE1
CDKN1C
FSHB
WT1
MYRF
DHCR7
DYNC2H1
DHH
AMHR2
TAC3
GRIP1
PPP1R12A
DUSP6
TBX3
DHX37
POLE
FREM2
ESR2
MKRN3
CYP19A1
CYP11A1
NR2F2
SOX8
SRCAP
ARMC5
B9D1
PSMC3IP
FZD2
SOX9
CBX2
CYB5A
KISS1R
AMH
CLPP
PNPLA6
LHB
PROKR2
MCM8
MKKS
FLRT3
RIPK4
AIRE
SOX10
KAL1
NR0B1
GK
BMP15
AR
ATRX
SOX3
MAMLD1
FAM58A
SRY
WNT4
RSPO1
TOE1
LEPR
HFM1
HSD3B2
PBX1
KISS1
IRF6
SRD5A2
LHCGR
FSHR
HS6ST1
LARS2
IL17RD
HESX1
PROK2
PLXNA1
FOXL2
SOX2
EIF2B5
GNRHR
FRAS1
TACR3
NEK1
NNT
MAP3K1
PCSK1
HSD17B4
GDF9
SPRY4
NR3C1
PROP1
ICK
TSPYL1
MCM9
ESR1
HOXA13
POR
SEMA3A
SAMD9
STAG3
FEZF1
LEP
CEP41
NOBOX
WDR60
GATA4
FGF17
GNRH1
STAR
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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