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CTPS1
CTP synthase 1
gene with protein product
OMIM: 123860
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Severe combined immunodeficiency due to CTPS1 deficiency
ORPHA:420573
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CTPS1
🧬
CTPS1
CTP synthase 1
gene with protein product
OMIM: 123860
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Severe combined immunodeficiency due to CTPS1 deficiency
ORPHA:420573
→