Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.D129E
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GNAT1

NM_144499.3:p.D129E

Associated Papers

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

Zeitz C et al.

Biomed Research International, 2018

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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."