Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.E246Q
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GNAO1

NM_020988.3:p.E246Q

Associated Papers

Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.

Sadiya I et al.

Bba Advances, 2026

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 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."