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GLS
glutaminase
gene with protein product
OMIM: 138280
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Neonatal epileptic encephalopathy due to glutaminase deficiency
ORPHA:557064
→
Spastic ataxia-dysarthria due to glutaminase deficiency
ORPHA:557056
→
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Редкие заболевания
GLS
🧬
GLS
glutaminase
gene with protein product
OMIM: 138280
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Neonatal epileptic encephalopathy due to glutaminase deficiency
ORPHA:557064
→
Spastic ataxia-dysarthria due to glutaminase deficiency
ORPHA:557056
→