Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.L200P
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VRK1

NM_003384.3:p.L200P

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

Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy.

Campos-Díaz A et al.

Journal of Molecular Medicine (berlin, Germany), 2024

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

Frasquet M et al.

European 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."