Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.C26fs
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DBT

NM_001918.5:p.C26fs

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

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.

Fang X et al.

Scientific Reports, 2021

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Imtiaz F et al.

Molecular Genetics and Metabolism Reports, 2017

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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."