Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.W180C
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VPS16

NM_022575.4:p.W180C

Associated Papers

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Monfrini E et al.

Movement Disorders Clinical Practice, 2024

38291845 (PubMed )
Supplement: MDC3-11-87-s001.xlsx › Foglio1

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Yıldız Y et al.

Clinical Genetics, 2021

Model-based analysis uncovers mutations altering autophagy selectivity in human cancer.

Han Z et al.

Nature Communications, 2021

34059679 (PubMed )
Supplement: 41467_2021_23539_MOESM6_ESM.xlsx › Supplementary_Data_3
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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."