Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.L174P
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KIF1A

NM_001244008.2:p.L174P

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

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.

Sine K et al.

Frontiers in Human Neuroscience, 2025

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

Nicita F et al.

Journal of Medical Genetics, 2021

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_2
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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."