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Neonatale erythrodermie ERY00v16.1
59 genen
Genpanel dekking 15X: 99.7 %
59 genen
Genpanel dekking 15X: 99.7 %
ERY00v16.1
06-07-2023
SLC30A2
DBT
GBA
IL10
ADAM17
IL36RN
ERCC3
CPS1
ABCA12
BTD
ABHD5
PCCB
CLDN1
KIT
IL7R
SPINK5
NIPAL4
CDSN
HLA-C
MUT
ELOVL4
BCKDHB
GTF2H5
MPLKIP
SLC25A13
DLD
SLC39A4
DOCK8
ASS1
IL2RA
DCLRE1C
RAG1
RAG2
KRT2
KRT1
GJB2
GJB6
PCCA
LIG4
TGM1
ALOX12B
ALOXE3
TNFRSF13B
ALDH3A2
KRT10
STAT3
CARD14
CYP4F22
BCKDHA
ERCC2
ADA
HLCS
TBX1
MBTPS2
EBP
IL2RG
ATP7A
BTK
NSDHL
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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