Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R265Q
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BCKDHA

NM_000709.4:p.R265Q

Associated Papers

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.

Fang X et al.

Scientific Reports, 2021

34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf

Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.

Yang C et al.

Gene, 2019

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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."