Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.N308D
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BCKDHA

NM_000709.4:p.N308D

Associated Papers

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Tresbach RH et al.

Molecular Genetics and Metabolism, 0

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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."