Varaico: Literature-Extracted Genetic Variants

Gene:GNB4
Variant:p.K57E
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GNB4

NM_021629.4:p.K57E

Associated Papers

Novel GNB4 Gene Variant and the Spectrum of GNB4 Variants in Patients With Charcot-Marie-Tooth Disease.

Pretkalnina D et al.

Neurology. Genetics, 2025

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.

Kwon HM et al.

Life (basel, Switzerland), 2021

The Emerging Role of Gβ Subunits in Human Genetic Diseases.

Malerba N et al.

Cells, 2019

Letter regarding the article: "A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy".

Berciano J et al.

European Journal of Medical Genetics, 2018

A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

Miura S et al.

European Journal of Medical Genetics, 2017

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Berciano J et al.

Journal of Neurology, 2017

Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient.

Laššuthová P et al.

Neuromuscular Disorders : Nmd, 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."