Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.M286I
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VRK1

NM_003384.3:p.M286I

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

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.

Demaegd K et al.

Neuromuscular Disorders : Nmd, 2022

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
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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."