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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL8A2

Variant:p.P435L

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COL8A2

NM_005202.4:p.P435L

hg38:chr1:36098377 G>A

Associated Papers

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.

Soumittra N et al.

Journal of Human Genetics, 2014

25007886 (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."