Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.P259L
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BCKDHA

NM_000709.4:p.P259L

Associated Papers

Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.

Jafari M et al.

Molecular Biology Reports, 2025

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

Zhang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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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."