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TBCD
tubulin folding cofactor D
gene with protein product
OMIM: 604649
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
ORPHA:496641
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Редкие заболевания
TBCD
🧬
TBCD
tubulin folding cofactor D
gene with protein product
OMIM: 604649
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
ORPHA:496641
→