Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.E436K
Back to variants list

CBS

NM_000071.3:p.E436K

Associated Papers

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Trip J et al.

European Journal of Human Genetics : Ejhg, 2008

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."