Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E49K
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PRKN

NM_004562.3:p.E49K

Associated Papers

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

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

Structure and functional determinants of Rad6-Bre1 subunits in the histone H2B ubiquitin-conjugating complex.

Shukla PK et al.

Nucleic Acids Research, 2023

36715322 (PubMed )
Supplement: gkad012_supplemental_files.zip › SupplementaryFiguresTables.pdf

Structural analysis of the effects of mutations in Ubl domain of Parkin leading to Parkinson's disease.

Biswas S et al.

Gene, 2020

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis
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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."