Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.M1insFs
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KIF1C

NM_006612.6:p.M1insFs

Associated Papers

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.

Mitsutake A et al.

Annals of Clinical and Translational Neurology, 2025

Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype.

Mahale R et al.

Acta Neurologica Belgica, 2024

Golgi Dysfunctions in Ciliopathies.

Masson J et al.

Cells, 2022

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Marchionni E et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019

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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."