Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.V103A
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BCKDHB

NM_183050.4:p.V103A

Associated Papers

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

Pode-Shakked N et al.

European Journal of Medical Genetics, 2020

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Yang N et al.

Molecular Genetics and Metabolism, 2012

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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."