Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.G51S
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SNCA

NM_000345.4:p.G51S

Associated Papers

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

Novel engineered nanobodies specific for N-terminal region of alpha-synuclein recognize Lewy-body pathology and inhibit in-vitro seeded aggregation and toxicity.

Hmila I et al.

The Febs Journal, 2022

The functional roles of retromer in Parkinson's disease.

Cui Y et al.

Febs Letters, 2018

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Gambardella S et al.

Frontiers in Neuroscience, 2016

Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.

Artemov AV et al.

Human Genome Variation, 2014

27081498 (PubMed )
Supplement: hgv20144-s2.doc

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M et al.

Journal of Medical Genetics, 2012

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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."