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WAC
WW domain containing adaptor with coiled-coil
gene with protein product
OMIM: 615049
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
ORPHA:284169
→
Disease-causing germline mutation(s) (loss of function) in
1
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ORPHA:466950
→
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WAC
🧬
WAC
WW domain containing adaptor with coiled-coil
gene with protein product
OMIM: 615049
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
ORPHA:284169
→
Disease-causing germline mutation(s) (loss of function) in
1
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ORPHA:466950
→