Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.R376C
Back to variants list

DBT

NM_001918.5:p.R376C

Associated Papers

Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis.

Strand JM et al.

Metabolism: Clinical and Experimental, 2014

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

Brodtkorb E et al.

Molecular Genetics and Metabolism, 2010

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."