Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.P357L
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DBT

NM_001918.5:p.P357L

Associated Papers

Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.

Jafari M et al.

Molecular Biology Reports, 2025

Molecular basis of various forms of maple syrup urine disease in Chilean patients.

Campanholi DRR et al.

Molecular Genetics & Genomic Medicine, 2021

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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."