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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A3

Variant:p.G3016fs

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COL6A3

NM_004369.4:p.G3016fs

hg38:chr2:237334809 ACC>N

Associated Papers

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Villar-Quiles RN et al.

Journal of Neuromuscular Diseases, 2021

33749658 (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."