Varaico: Literature-Extracted Genetic Variants

Gene:VAC14
Variant:p.G366Splc
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VAC14

NM_018052.5:p.G366Splc

Associated Papers

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.

Cuinat S et al.

Movement Disorders Clinical Practice, 2025

40443206 (PubMed )
Supplement: MDC3-12-1668-s002.xlsx › Feuil1

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review.

Lindsay R et al.

Movement Disorders Clinical Practice, 2025

Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.

Beauregard-Lacroix É et al.

Genetics in Medicine Open, 2024

39669591 (PubMed )
Supplement: mmc3.xlsx › Feuil1

Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.

Liao S et al.

Molecular Genetics & Genomic Medicine, 2020

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

Stutterd C et al.

Annals of Clinical and Translational Neurology, 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."