Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.S202G
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KIF5A

NM_004984.4:p.S202G

Associated Papers

Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity.

Mansour AN et al.

Annals of Medicine and Surgery (2012), 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG10

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Cozzi M et al.

Cell Death & Disease, 2024

39333504 (PubMed )
Supplement: 41419_2024_7096_MOESM2_ESM.docx
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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."