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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDHB

Variant:p.A29_A32del4

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BCKDHB

NM_183050.4:p.A29_A32del4

hg38:chr6:80106777 CGCGGGGCTGGCG>C

Associated Papers

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.

Yang X et al.

Qjm : Monthly Journal of the Association of Physicians, 2024

38837343 (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."