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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL8A1

Variant:p.V13_L14ins0

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COL8A1

NM_020351.4:p.V13_L14ins0

hg38:chr3:99790719 G>GTGC

Associated Papers

Keratoconus is not associated with mutations in COL8A1 and COL8A2.

Aldave AJ et al.

Cornea, 2007

17721297 (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."