Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.N222H
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KIF1A

NM_001244008.2:p.N222H

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

Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.

Xiong GJ et al.

The Journal of Cell Biology, 2024

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.

Lin J et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023

KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.

Nair A et al.

Pharmaceuticals (basel, Switzerland), 2023

[A study on KIF1A gene missense variant analysis and its protein expression and structure profiles of an autism spectrum disorder family trio].

Huang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."