Varaico: Literature-Extracted Genetic Variants

Gene:GNB1
Variant:p.D118Y
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GNB1

NM_002074.5:p.D118Y

Associated Papers

Dosage effect of copy number variation in epilepsy and ten regions of the human brain.

De T et al.

Scientific Reports, 2025

41345172 (PubMed )
Supplement: 41598_2025_28338_MOESM2_ESM.xlsx › SNPs

A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation.

Rožmarić G et al.

Acta Neurologica Belgica, 2023

Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.

Lansdon LA et al.

American Journal of Medical Genetics. Part A, 2021

Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.

Da Silva JD et al.

Frontiers in Neurology, 2021

Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Jones HF et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

Yoda A et al.

Nature Medicine, 2015

25485910 (PubMed )
Supplement: NIHMS636733-supplement-1.xlsx › Supplementary_Table_1
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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."