Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R380W
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KIF1A

NM_001244008.2:p.R380W

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

Van Beusichem AE et al.

Neuropediatrics, 2020

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."