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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDHB

Variant:p.F149S

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BCKDHB

NM_183050.4:p.F149S

hg38:chr6:80167780 T>C

Associated Papers

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.

Zhu H et al.

Annals of Indian Academy of Neurology, 2024

39363617 (PubMed )

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