Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R355H
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KIF1A

NM_001244008.2:p.R355H

Associated Papers

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

Ghafoor S et al.

The International Journal of Neuroscience, 2024

Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing.

Zheng W et al.

Frontiers in Aging Neuroscience, 2024

Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.

Liao P et al.

Translational Neurodegeneration, 2022

36284339 (PubMed )
Supplement: 40035_2022_320_MOESM1_ESM.pdf

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Esmaeeli Nieh S et al.

Annals of Clinical and Translational Neurology, 2015

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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."