Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.Y195C
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BCKDHB

NM_183050.4:p.Y195C

Associated Papers

Diagnosis of an intermediate case of maple syrup urine disease: A case report.

Lin YT et al.

World Journal of Clinical Cases, 2023

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

Pode-Shakked N et al.

European Journal of Medical Genetics, 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."