Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R380P
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KIF1A

NM_001244008.2:p.R380P

Associated Papers

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q et al.

European Journal of Human Genetics : Ejhg, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

A de novo low-frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review.

Liu M et al.

Annals of Human Genetics, 2023

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

Vecchia SD et al.

Journal of Neurology, 2022

Somatic mutations in cerebral cortical malformations.

Jamuar SS et al.

The New England Journal of Medicine, 2014

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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."