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Dysmorfologie
Hemifaciale microsomie OWS01v16.1
26 genen
Genpanel dekking 15X: 99.7 %
26 genen
Genpanel dekking 15X: 99.7 %
OWS01v16.1
06-07-2023
GNAI3
SF3B4
FGFR3
FGF10
TCOF1
TFAP2A
POLR1C
HOXA2
SEMA3E
CHD7
EYA1
GDF6
FGFR2
FGF3
GDF3
POLR1D
OTX2
SIX1
SALL1
DHODH
MEOX1
EFTUD2
EIF4A3
TSHZ1
PLCB4
SALL4
ORC1
GNAI3
SF3B4
POLR1A
ORC4
FGFR3
HMX1
FRAS1
EDNRA
FGF10
HSPA9
TCOF1
TFAP2A
POLR1C
HOXA2
SLC26A4
CHD7
EYA1
GDF6
FGFR2
FGF3
KMT2D
GRIP1
POLR1D
FREM2
BMP4
OTX2
SIX1
GSC
ORC6
SALL1
DHODH
CDT1
CDC6
EFTUD2
EIF4A3
RPS28
SIX5
PLCB4
SALL4
SOX10
OFD1
KDM6A
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Hemifaciale microsomie OWS01v19.1
43 genen
Genpanel dekking 15X: 100 %
43 genen
Genpanel dekking 15X: 100 %
OWS01v19.1
12-11-2024
GNAI3
SF3B4
FGFR3
FGF10
TCOF1
TFAP2A
POLR1C
HOXA2
SEMA3E
CHD7
EYA1
GDF6
FGFR2
FGF3
GDF3
POLR1D
OTX2
SIX1
SALL1
DHODH
MEOX1
EFTUD2
EIF4A3
TSHZ1
PLCB4
SALL4
ORC1
GNAI3
SF3B4
POLR1A
ORC4
FGFR3
HMX1
FRAS1
EDNRA
FGF10
HSPA9
TCOF1
TFAP2A
POLR1C
HOXA2
SLC26A4
CHD7
EYA1
GDF6
FGFR2
FGF3
KMT2D
GRIP1
POLR1D
FREM2
BMP4
OTX2
SIX1
GSC
ORC6
SALL1
DHODH
CDT1
CDC6
EFTUD2
EIF4A3
RPS28
SIX5
PLCB4
SALL4
SOX10
OFD1
KDM6A
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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