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PSPH
phosphoserine phosphatase
gene with protein product
OMIM: 172480
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
3-phosphoserine phosphatase deficiency, infantile/juvenile form
ORPHA:79350
→
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
ORPHA:583612
→
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Редкие заболевания
PSPH
🧬
PSPH
phosphoserine phosphatase
gene with protein product
OMIM: 172480
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
3-phosphoserine phosphatase deficiency, infantile/juvenile form
ORPHA:79350
→
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
ORPHA:583612
→