Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G180R
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BCKDHA

NM_000709.4:p.G180R

Associated Papers

Altered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease.

Roberti D et al.

Communications Medicine, 2025

Advancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study.

Fortis SP et al.

Journal of Proteome Research, 2025

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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."