Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.W74insFs
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PRKN

NM_004562.3:p.W74insFs

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Gómez-Garre P et al.

European Journal of Neurology, 2025

39498811 (PubMed )
Supplement: ENE-32-e16499-s006.xlsx › Hoja1

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

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2022

Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.

Macías-García D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

34859503 (PubMed )
Supplement: supplement_1.docx
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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."