Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.Q45*
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PARK7

NM_007262.5:p.Q45*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

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

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Genetic and clinical study of PARK7 in Japanese Parkinson's disease.

Ishiguro M et al.

Heliyon, 2024

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

Fujita M et al.

Frontiers in Neuroscience, 2024

38817911 (PubMed )
Supplement: Table_1.DOCX

DJ-1 in Parkinson's Disease: Clinical Insights and Therapeutic Perspectives.

Repici M et al.

Journal of Clinical Medicine, 2019

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis.

Gil-Bea FJ et al.

Expert Reviews in Molecular Medicine, 2017

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

Hanagasi HA et al.

Parkinsonism & Related Disorders, 2016

The distinct genetic pattern of ALS in Turkey and novel mutations.

Özoğuz A et al.

Neurobiology of Aging, 2015

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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."