Varaico: Literature-Extracted Genetic Variants

Gene:VWA1
Variant:p.G25fs
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VWA1

NM_022834.5:p.G25fs

Associated Papers

Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Laurini C et al.

Brain : a Journal of Neurology, 2025

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Choi WJ et al.

Scientific Reports, 2024

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Zambon AA et al.

Brain : a Journal of Neurology, 2023

Hereditary motor neuropathies.

Frasquet M et al.

Current Opinion in Neurology, 2022

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Deschauer M et al.

Brain : a Journal of Neurology, 2021

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta AT et al.

Brain : a Journal of Neurology, 2021

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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."