Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q178_G179Splc
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PRKN

NM_004562.3:p.Q178_G179Splc

Associated Papers

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

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ et al.

Npj Parkinson's Disease, 2024

38553467 (PubMed )
Supplement: 41531_2024_677_MOESM1_ESM.pdf

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

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

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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."