Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.A828fs
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KIF1C

NM_006612.6:p.A828fs

Associated Papers

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

Mahale R et al.

Acta Neurologica Belgica, 2024

Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.

Gabrych DR et al.

Frontiers in Cellular Neuroscience, 2019

31616253 (PubMed )
Supplement: Table_1.docx

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

Yücel-Yılmaz D et al.

Brain & Development, 2018

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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."