Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.Y154*
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GNAT2

NM_001377295.2:p.Y154*

Associated Papers

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

36259723 (PubMed )
Supplement: HUMU-43-2234-s007.xlsx › DIVs

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

Rosenberg T et al.

Investigative Ophthalmology & Visual Science, 2004

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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."