Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.W84C
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DBT

NM_001918.5:p.W84C

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

Natural variation in C. elegans arsenic toxicity is explained by differences in branched chain amino acid metabolism.

Zdraljevic S et al.

Elife, 2019

Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis.

Strand JM et al.

Metabolism: Clinical and Experimental, 2014

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

Brodtkorb E et al.

Molecular Genetics and Metabolism, 2010

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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."