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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A3

Variant:p.S576insFs

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COL6A3

NM_004369.4:p.S576insFs

hg38:chr2:237381085 C>CT

Associated Papers

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.

Chawla T et al.

Neurogenetics, 2024

39103709 (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."