Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.G93R
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PRKN

NM_004562.3:p.G93R

Associated Papers

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

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Autophagy and lysosomal pathways in nervous system disorders.

Bingol B

Molecular and Cellular Neurosciences, 2018

Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.

Rajasekaran R et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

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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."