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KDSR
3-ketodihydrosphingosine reductase
gene with protein product
OMIM: 136440
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Erythrokeratodermia variabilis
ORPHA:317
→
Progressive symmetric erythrokeratodermia
ORPHA:316
→
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KDSR
🧬
KDSR
3-ketodihydrosphingosine reductase
gene with protein product
OMIM: 136440
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Erythrokeratodermia variabilis
ORPHA:317
→
Progressive symmetric erythrokeratodermia
ORPHA:316
→