Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.D117N
Back to variants list

DES

NM_001927.4:p.D117N

Associated Papers

A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.

Zheng J et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2017

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

Genetics of dilated cardiomyopathy.

Kärkkäinen S et al.

Annals of Medicine, 2007

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.

Finsterer J et al.

International Journal of Cardiology, 2006

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."