Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.P117T
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SNCA

NM_000345.4:p.P117T

Associated Papers

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

A population scale analysis of rare SNCA variation in the UK Biobank.

Blauwendraat C et al.

Neurobiology of Disease, 2021

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Pathogenicity_questioned
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