Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.L249V
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KIF1A

NM_001244008.2:p.L249V

Associated Papers

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q et al.

European Journal of Human Genetics : Ejhg, 2025

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

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

31700678 (PubMed )
Supplement: 41525_2019_101_MOESM1_ESM.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."