Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.N52S
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PRKN

NM_004562.3:p.N52S

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

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.

Kang HM et al.

Cell & Bioscience, 2022

35869491 (PubMed )
Supplement: 13578_2022_851_MOESM2_ESM.docx

FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.

Luo LZ et al.

Neuroscience Letters, 2010

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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."