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SHANK3
SH3 and multiple ankyrin repeat domains 3
gene with protein product
OMIM: 606230
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Phelan-McDermid syndrome due to SHANK3 mutation
ORPHA:662172
→
Роль в фенотипе
1
Phelan-McDermid syndrome due to 22q13.3 deletion
ORPHA:662169
→
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Редкие заболевания
SHANK3
🧬
SHANK3
SH3 and multiple ankyrin repeat domains 3
gene with protein product
OMIM: 606230
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Phelan-McDermid syndrome due to SHANK3 mutation
ORPHA:662172
→
Роль в фенотипе
1
Phelan-McDermid syndrome due to 22q13.3 deletion
ORPHA:662169
→