Varaico: Literature-Extracted Genetic Variants

Gene:VAC14
Variant:p.R623H
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VAC14

NM_018052.5:p.R623H

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

Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.

Baumann H et al.

Parkinsonism & Related Disorders, 2020

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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."