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DBT
dihydrolipoamide branched chain transacylase E2
gene with protein product
OMIM: 248610
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
4
Intermediate maple syrup urine disease
ORPHA:268162
→
Classic maple syrup urine disease
ORPHA:268145
→
Thiamine-responsive maple syrup urine disease
ORPHA:268184
→
Intermittent maple syrup urine disease
ORPHA:268173
→
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Редкие заболевания
DBT
🧬
DBT
dihydrolipoamide branched chain transacylase E2
gene with protein product
OMIM: 248610
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
4
Intermediate maple syrup urine disease
ORPHA:268162
→
Classic maple syrup urine disease
ORPHA:268145
→
Thiamine-responsive maple syrup urine disease
ORPHA:268184
→
Intermittent maple syrup urine disease
ORPHA:268173
→