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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL8A2

Variant:p.L569Q

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COL8A2

NM_005202.4:p.L569Q

hg38:chr1:36097975 A>T

Associated Papers

Mutational spectrum of Korean patients with corneal dystrophy.

Chae H et al.

Clinical Genetics, 2016

26748743 (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."