Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A138Splc
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PRKN

NM_004562.3:p.A138Splc

Associated Papers

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.

Jankovic MZ et al.

Journal of the Neurological Sciences, 2018

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

Gaweda-Walerych K et al.

Neurobiology of Aging, 2016

Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.

Erer S et al.

Clinical Neurology and Neurosurgery, 2016

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.

Bozi M et al.

European Journal of Neurology, 2014

Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach.

Spuler S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

[Association analysis of the parkin gene in patients with sporadic Parkinson's disease from a Han population of Sichuan province].

Peng R et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.

Biswas A et al.

Parkinsonism & Related Disorders, 2006

Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts.

Schlitter AM et al.

Acta Neurologica Scandinavica, 2006

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

Pigullo S et al.

Parkinsonism & Related Disorders, 2004

[New polymorphism (IVS3-20 T-->C) of the parkin gene associated with the early-onset Parkinson's disease in Chinese].

Zou HQ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

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