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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL8A1

Variant:p.G545A

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COL8A1

NM_020351.4:p.G545A

hg38:chr3:99795535 G>C

Associated Papers

Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

Stabuc-Silih M et al.

Molecular Vision, 2009

20029656 (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."