Varaico: Literature-Extracted Genetic Variants

Gene:VPS51
Variant:p.A744delFs
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VPS51

NM_013265.4:p.A744delFs

Associated Papers

GARP Complex in Golgi Physiology.

Khakurel A et al.

Sub-cellular Biochemistry, 2026

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular Consequences.

Aygun D et al.

International Journal of Molecular Sciences, 2025

Role of GARP Vesicle Tethering Complex in Golgi Physiology.

Khakurel A et al.

International Journal of Molecular Sciences, 2023

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

D'Souza Z et al.

Cells, 2021

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Uwineza A et al.

European Journal of Medical Genetics, 2019

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.

Gershlick DC et al.

Human Molecular Genetics, 2019

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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."