Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.Q858*
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COL6A2

NM_001849.4:p.Q858*

Associated Papers

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.

Cenni V et al.

Cells, 2024

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.

Merlini L et al.

International Journal of Molecular Sciences, 2023

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.

Sabatelli P et al.

International Journal of Environmental Research and Public Health, 2022

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A et al.

Annals of Neurology, 2015

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Tagliavini F et al.

Biochimica Et Biophysica Acta, 2014

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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."