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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL8A2

Variant:p.E347*

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COL8A2

NM_005202.4:p.E347*

hg38:chr1:36098642 C>A

Associated Papers

Genetics of corneal dystrophies: the evolving landscape.

Pieramici SF et al.

Current Opinion in Ophthalmology, 2006

16900028 (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."