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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A2

Variant:p.C611Y

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COL6A2

NM_001849.4:p.C611Y

hg38:chr21:46125480 G>A

Associated Papers

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Zanotti S et al.

International Journal of Molecular Sciences, 2023

36982625 (PubMed )

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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."