Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E16E
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PRKN

NM_004562.3:p.E16E

Associated Papers

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

Prevalence, mutation patterns, and effects on protease inhibitor susceptibility of the L76V mutation in HIV-1 protease.

Young TP et al.

Antimicrobial Agents and Chemotherapy, 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

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."