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RBCK1
RANBP2-type and C3HC4-type zinc finger containing 1
gene with protein product
OMIM: 610924
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
ORPHA:329173
→
Polyglucosan body myopathy type 1
ORPHA:397937
→
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Редкие заболевания
RBCK1
🧬
RBCK1
RANBP2-type and C3HC4-type zinc finger containing 1
gene with protein product
OMIM: 610924
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
ORPHA:329173
→
Polyglucosan body myopathy type 1
ORPHA:397937
→