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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A1

Variant:p.K310_G311Splc

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COL6A1

NM_001848.3:p.K310_G311Splc

hg38:chr21:45990256 A>C

Associated Papers

Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.

Fan Y et al.

Clinical Genetics, 2018

29419890 (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."