Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R346Splc
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KIF1A

NM_001244008.2:p.R346Splc

Associated Papers

Understanding speech and language in KIF1A-associated neurological disorder.

Morison LD et al.

European Journal of Human Genetics : Ejhg, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

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

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.

Nemani T et al.

Journal of the Peripheral Nervous System : Jpns, 2020

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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."