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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A1

Variant:p.R288delFs

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COL6A1

NM_001848.3:p.R288delFs

hg38:chr21:45989610 AAG>A

Associated Papers

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

39544142 (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."