Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.S974delFs
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KIF5A

NM_004984.4:p.S974delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Hot-spot KIF5A mutations cause familial ALS.

Brenner D et al.

Brain : a Journal of Neurology, 2018

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

Rydzanicz M et al.

Clinical Genetics, 2017

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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."