Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.C59S
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PRKN

NM_004562.3:p.C59S

Associated Papers

Microtubule end-on attachment maturation regulates Mps1 association with its kinetochore receptor.

Pleuger R et al.

Current Biology : Cb, 2024

Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.

Song S et al.

The Journal of Biological Chemistry, 2013

Characterization of three Arabidopsis homologs of human RING membrane anchor E3 ubiquitin ligase.

Son O et al.

Plant Cell Reports, 2009

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Millar DS et al.

Human Mutation, 2003

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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."