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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJA8

Variant:p.E16A

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GJA8

NM_005267.5:p.E16A

hg38:chr1:147908002 A>C

Associated Papers

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Guleria K et al.

Molecular Vision, 2007

17615540 (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."