Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G283D
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BCKDHA

NM_000709.4:p.G283D

Associated Papers

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Tejedor JR et al.

Journal of Inherited Metabolic Disease, 2025

Mutational spectrum of maple syrup urine disease in Spain.

Rodríguez-Pombo P et al.

Human Mutation, 2006

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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."