Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.E330G
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BCKDHB

NM_183050.4:p.E330G

Associated Papers

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.

Nguyen TTN et al.

Molecular Genetics & Genomic Medicine, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."