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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A2

Variant:p.W702*

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COL6A2

NM_001849.4:p.W702*

hg38:chr21:46125920 G>A

Associated Papers

Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report.

Hu J et al.

World Journal of Clinical Cases, 2022

35071537 (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."