Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.W313C
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KIF1A

NM_001244008.2:p.W313C

Associated Papers

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Safka Brozkova D et al.

Human Genomics, 2026

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q et al.

European Journal of Human Genetics : Ejhg, 2025

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

Uhrova Meszarosova A et al.

Frontiers in Medicine, 2025

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA et al.

Pediatric Neurology, 2024

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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."