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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A1

Variant:p.G779E

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COL4A1

NM_001845.6:p.G779E

hg38:chr13:110179279 C>T

Associated Papers

Genome sequencing in congenital cataracts improves diagnostic yield.

Ma A et al.

Human Mutation, 2021

34101287 (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."