Varaico: Literature-Extracted Genetic Variants

Gene:GNB5
Variant:p.D302E
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GNB5

NM_016194.4:p.D302E

Associated Papers

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

De Nittis P et al.

Journal of Medical Genetics, 2021

33172956 (PubMed )
Supplement: jmedgenet-2020-107015supp004.pdf

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.

Yazdani S et al.

Molecular Genetics and Metabolism Reports, 2020

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).

Sciacca FL et al.

Frontiers in Genetics, 2020

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK et al.

Genome Medicine, 2017

28327206 (PubMed )
Supplement: 13073_2017_412_MOESM3_ESM.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."