Varaico: Literature-Extracted Genetic Variants

Gene:GNB5
Variant:p.A119fs
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GNB5

NM_006578.4:p.A119fs

Associated Papers

Gene mutations in comorbidity of epilepsy and arrhythmia.

Yu C et al.

Journal of Neurology, 2023

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

Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy.

Turkdogan D et al.

Seizure, 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."