Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.R89*
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VRK1

NM_003384.3:p.R89*

Associated Papers

The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.

Mercan M et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.

Živković SA et al.

Neuromuscular Disorders : Nmd, 2025

Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.

Sung A et al.

Neurology. Genetics, 2021

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

Silva DP et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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."