Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.G498R
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COL8A2

NM_005202.4:p.G498R

Associated Papers

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

Mok JW et al.

Eye (london, England), 2009

Keratoconus is not associated with mutations in COL8A1 and COL8A2.

Aldave AJ et al.

Cornea, 2007

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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."