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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJA8

Variant:p.R198G

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GJA8

NM_005267.5:p.R198G

hg38:chr1:147908547 C>G

Associated Papers

Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.

Xia CH et al.

Plos One, 2012

23300808 (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."