Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.Q299K
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GJA8

NM_005267.5:p.Q299K

Associated Papers

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Hansen L et al.

Molecular Vision, 2007

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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."