Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q71*
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PRKN

NM_004562.3:p.Q71*

Associated Papers

PARK2 deletions occur frequently in sporadic colorectal cancer and accelerate adenoma development in Apc mutant mice.

Poulogiannis G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease.

van Eimeren T et al.

Parkinsonism & Related Disorders, 2010

Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles.

Hagenah JM et al.

Journal of Neurology, 2007

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Kann M et al.

Annals of Neurology, 2002

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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."