Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.C258*
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BCKDHA

NM_000709.4:p.C258*

Associated Papers

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Younes S et al.

Bmc Medical Genomics, 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."