Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G268C
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BCKDHA

NM_000709.4:p.G268C

Associated Papers

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.

Ali EZ et al.

Molecular Genetics and Metabolism Reports, 2018

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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."