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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A2

Variant:p.S666_H667delFs

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COL6A2

NM_001849.4:p.S666_H667delFs

hg38:chr21:46125812 GCC>G

Associated Papers

Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

Hu C et al.

Human Mutation, 2024

40225934 (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."