Varaico: Literature-Extracted Genetic Variants

Gene:GNB2
Variant:p.R52L
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GNB2

NM_005273.4:p.R52L

Associated Papers

Generation of a patient-specific hiPS cell line with heterozygous GNB2 mutation (UKMi003-A) causative for human sinus node dysfunction and a corresponding CRISPR/Cas9-corrected isogenic control (UKMi004-A).

Kayser A et al.

Stem Cell Research, 2024

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Tan NB et al.

Journal of Medical Genetics, 2022

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.

Fukuda T et al.

European Journal of Medical Genetics, 2020

The Emerging Role of Gβ Subunits in Human Genetic Diseases.

Malerba N et al.

Cells, 2019

A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.

Stallmeyer B et al.

Circulation Research, 2017

Pacing Discovery: G-Protein β Subunit Mutations in Sinus Node Dysfunction.

Lodder EM et al.

Circulation Research, 2017

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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."