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SORD
sorbitol dehydrogenase
gene with protein product
OMIM: 182500
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
ORPHA:700508
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Редкие заболевания
SORD
🧬
SORD
sorbitol dehydrogenase
gene with protein product
OMIM: 182500
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
ORPHA:700508
→