Varaico: Literature-Extracted Genetic Variants

Gene:VAC14
Variant:p.T632M
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VAC14

NM_018052.5:p.T632M

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

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

Beauregard-Lacroix É et al.

Genetics in Medicine Open, 2024

39669591 (PubMed )
Supplement: mmc2.xlsx › Feuil1

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

Liao S et al.

Molecular Genetics & Genomic Medicine, 2020

Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Lines MA et al.

European Journal of Human Genetics : Ejhg, 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."