Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A56_K62ins2
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PARK7

NM_007262.5:p.A56_K62ins2

Associated Papers

A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.

El Otmani H et al.

Movement Disorders Clinical Practice, 2025

Cranial Dystonia as an Isolated Presentation of DJ-1 Disease: Case Report and Literature Review.

Rajapakshe I et al.

Movement Disorders Clinical Practice, 2023

36825062 (PubMed )
Supplement: supplement_1.docx

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Hanagasi HA et al.

Parkinsonism & Related Disorders, 2016

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.

Bras JM et al.

Movement Disorders Clinical Practice, 2014

DJ-1 variants in Indian Parkinson's disease patients.

Sadhukhan T et al.

Disease Markers, 2012

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

Crosiers D et al.

Journal of Chemical Neuroanatomy, 2011

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders.

Kahle PJ et al.

Free Radical Biology & Medicine, 2009

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

Keyser RJ et al.

Bmc Medical Genetics, 2009

Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.

Tarantino P et al.

Parkinsonism & Related Disorders, 2009

Role of DJ-1 in Parkinson's disease.

Lev N et al.

Journal of Molecular Neuroscience : Mn, 2006

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.

Kress JA et al.

Annals of Neurology, 2005

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

Annesi G et al.

Annals of Neurology, 2005

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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."