Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.E959K
Back to variants list

COL6A2

NM_001849.4:p.E959K

Associated Papers

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.

Simsek-Kiper PO et al.

Neuropediatrics, 2020

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."