Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.Q44*
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BCKDHA

NM_000709.4:p.Q44*

Associated Papers

Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.

Narayanan MP et al.

Indian Journal of Biochemistry & Biophysics, 2013

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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."