Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R155C
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KIF1A

NM_001244008.2:p.R155C

Associated Papers

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.

Sine K et al.

Frontiers in Human Neuroscience, 2025

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Vecchia SD et al.

Journal of Neurology, 2022

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Boyle L et al.

Hgg Advances, 2021

33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S4

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
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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."