Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.G657Splc
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COL6A2

NM_001849.4:p.G657Splc

Associated Papers

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

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.

Castagnaro S et al.

Autophagy, 2016

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

A refined diagnostic algorithm for Bethlem myopathy.

Hicks D et al.

Neurology, 2008

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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."