Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.H437fs
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BCKDHA

NM_000709.4:p.H437fs

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

Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease.

Chin HL et al.

Molecular Genetics and Metabolism Reports, 2015

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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."