Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.T392A
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DBT

NM_001918.5:p.T392A

Associated Papers

Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.

Alijanpour M et al.

Laboratory Medicine, 2022

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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."