Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.K273del1
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GNAT1

NM_144499.3:p.K273del1

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.

Kubota D et al.

Ophthalmic Genetics, 2019

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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."