Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.E11Q
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GNAT2

NM_001377295.2:p.E11Q

Associated Papers

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Ouechtati F et al.

Journal of Human Genetics, 2011

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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."