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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDHB

Variant:p.W10*

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BCKDHB

NM_183050.4:p.W10*

hg38:chr6:80106722 G>A

Associated Papers

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine.

Khalaf-Nazzal R et al.

Jimd Reports, 2026

41737903 (PubMed )

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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."