Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.P117S
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SNCA

NM_000345.4:p.P117S

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.

Kishore A et al.

Npj Parkinson's Disease, 2024

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.

Wen YF et al.

Neural Regeneration Research, 2022

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Fevga C et al.

Parkinsonism & Related Disorders, 2021

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-4-pkn-10.3233_jpd-212658.xlsx › ADPD

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Guo Y et al.

Frontiers in Aging Neuroscience, 2021

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.

Zhao Y et al.

Brain : a Journal of Neurology, 2020

Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.

Krohn L et al.

Annals of Neurology, 2020

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations.

Dowjat WK et al.

Journal of Alzheimer's Disease : Jad, 2004

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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."