Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.R42C
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UBA52

NM_001033930.3:p.R42C

Associated Papers

Mass spectrometry assisted arginine side chains assignment of NMR resonances in natural abundance proteins.

Lu J et al.

Journal of Biomolecular Nmr, 2020

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Fava VM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Genetic polymorphisms associated with intervertebral disc degeneration.

Mayer JE et al.

The Spine Journal : Official Journal of the North American Spine Society, 2013

Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

Veeriah S et al.

Nature Genetics, 2010

Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.

Biswas A et al.

Parkinsonism & Related Disorders, 2006

Parkin mutations in familial and sporadic Parkinson's disease among Indians.

Chaudhary S et al.

Parkinsonism & Related Disorders, 2006

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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."