Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R346S
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KIF1A

NM_001244008.2:p.R346S

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG30

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.

Sardina F et al.

European Journal of Neurology, 2023

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

Vecchia SD et al.

Journal of Neurology, 2022

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )
Supplement: aww111_supplementary_data.zip › brain-2015-01890-File008.pdf
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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."