Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.M329V
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BCKDHA

NM_000709.4:p.M329V

Associated Papers

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

Fernández-Guerra P et al.

Molecular Genetics & Genomic Medicine, 2014

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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."