Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.D983_V984del0
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COL6A2

NM_001849.4:p.D983_V984del0

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

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.

Gualandi F et al.

Muscle & Nerve, 2011

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Bovolenta M et al.

Bmc Medical Genetics, 2010

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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."