Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.N445_V446delFs
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DBT

NM_001918.5:p.N445_V446delFs

Associated Papers

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine.

Khalaf-Nazzal R et al.

Jimd Reports, 2026

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

Molecular characterization of maple syrup urine disease patients from Tunisia.

Jaafar N et al.

Gene, 2013

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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."