Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.F914del1
Back to variants list

COL6A2

NM_001849.4:p.F914del1

Associated Papers

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Causative variant profile of collagen VI-related dystrophy in Japan.

Inoue M et al.

Orphanet Journal of Rare Diseases, 2021

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."