Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.P343L
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PRKN

NM_004562.3:p.P343L

Associated Papers

Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes.

Noerenberg D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

38055913 (PubMed )
Supplement: DS3_JCO.23.01053.xlsx › Table_S2.7

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Vacchiano V et al.

Genes, 2022

35893043 (PubMed )
Supplement: genes-13-01306-s001.zip › genes-1768203-supplementary.pdf

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

Mutational Impact on "in-Between-Ring" (IBR) Domain of PARKIN on Protein Stability and Function.

Biswas S et al.

Applied Biochemistry and Biotechnology, 2021

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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."