Varaico: Literature-Extracted Genetic Variants

Gene:COL8A1
Variant:p.P195L
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COL8A1

NM_020351.4:p.P195L

Associated Papers

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Ophthalmology Science, 2023

Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Merle BMJ et al.

Investigative Ophthalmology & Visual Science, 2020

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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."