Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.R219I
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VRK1

NM_003384.3:p.R219I

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

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

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

El-Bazzal L et al.

Human Molecular Genetics, 2019

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Scherrer C et al.

Journal of Tissue Engineering, 0

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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."