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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL8A1

Variant:p.R709delFs

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COL8A1

NM_020351.4:p.R709delFs

hg38:chr3:99796026 AG>A

Associated Papers

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Tananuvat N et al.

Journal of Human Genetics, 2021

32884076 (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."