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CTPS1

CTP synthase 1

gene with protein productOMIM: 1238601 заболевание
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in1
Severe combined immunodeficiency due to CTPS1 deficiencyORPHA:420573
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Данные: Orphadata (CC-BY-4.0)