Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q178_G179Splc
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PRKN

NM_004562.3:p.Q178_G179Splc

Associated Papers

The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.

Daida K et al.

Annals of Neurology, 2025

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.

Daida K et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.

Sun YM et al.

Npj Parkinson's Disease, 2023

Metabolomics-based identification of metabolic alterations in PARK2.

Okuzumi A et al.

Annals of Clinical and Translational Neurology, 2019

PARK2 Patient Presenting with Dopa-Responsive Dystonia.

Yoshii F et al.

Case Reports in Neurology, 0

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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."