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CPA6
carboxypeptidase A6
gene with protein product
OMIM: 609562
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
1
Familial mesial temporal lobe epilepsy
ORPHA:163717
→
Disease-causing germline mutation(s) (loss of function) in
1
Genetic epilepsy with febrile seizure plus
ORPHA:36387
→
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Редкие заболевания
CPA6
🧬
CPA6
carboxypeptidase A6
gene with protein product
OMIM: 609562
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
1
Familial mesial temporal lobe epilepsy
ORPHA:163717
→
Disease-causing germline mutation(s) (loss of function) in
1
Genetic epilepsy with febrile seizure plus
ORPHA:36387
→