Varaico: Literature-Extracted Genetic Variants

Gene:GNB5
Variant:p.V83V
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GNB5

NM_016194.4:p.V83V

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

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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."