Varaico: Literature-Extracted Genetic Variants

Gene:GNB5
Variant:p.D74fs
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GNB5

NM_006578.4:p.D74fs

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

The epileptology of GNB5 encephalopathy.

Poke G et al.

Epilepsia, 2019

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

Malerba N et al.

Frontiers in Genetics, 2018

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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."