Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.S399C
Back to variants list

DBT

NM_001918.5:p.S399C

Associated Papers

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Lakkhana P et al.

Orphanet Journal of Rare Diseases, 2024

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.

Ali EZ et al.

Molecular Genetics and Metabolism Reports, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."