Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R265W
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BCKDHA

NM_000709.4:p.R265W

Associated Papers

Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.

Wang J et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

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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."