Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.S974fs
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KIF5A

NM_004984.4:p.S974fs

Associated Papers

Genotype-phenotype correlations of KIF5A stalk domain variants.

de Boer EMJ et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

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."