Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.Q113fs
Back to variants list

DES

NM_001927.4:p.Q113fs

Associated Papers

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Hong D et al.

Neuropathology and Applied Neurobiology, 2011

[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].

Hong DJ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 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."