Varaico: Literature-Extracted Genetic Variants

Gene:GABRG3
Variant:p.P365S
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GABRG3

NM_033223.5:p.P365S

Associated Papers

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs

Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population.

Wang L et al.

Translational Psychiatry, 2018

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF et al.

Plos One, 2017

28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1
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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."