Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.Q289P
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KIF1C

NM_006612.6:p.Q289P

Associated Papers

Two homozygous KIF1C variants in a Turkish family presenting with cerebellar dysfunction and spastic paraparesis with MRI findings.

Tarhan G et al.

Parkinsonism & Related Disorders, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG58

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Vural A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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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."