Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A85delFs
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SNCA

NM_000345.4:p.A85delFs

Associated Papers

Patient-Derived Induced Pluripotent Stem Cell-Based Models in Parkinson's Disease for Drug Identification.

Kouroupi G et al.

International Journal of Molecular Sciences, 2020

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Nuytemans K et al.

Human Mutation, 2009

Deciphering the role of heterozygous mutations in genes associated with parkinsonism.

Klein C et al.

The Lancet. Neurology, 2007

Progress in familial Parkinson's disease.

Mizuno Y et al.

Journal of Neural Transmission. Supplementum, 2006

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

Periquet M et al.

American Journal of Human Genetics, 2001

Familial Parkinson's disease. Alpha-synuclein and parkin.

Mizuno Y et al.

Advances in Neurology, 2001

Progress in the clinical and molecular genetics of familial parkinsonism.

Kitada T et al.

Neurogenetics, 2000

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Abbas N et al.

Human Molecular Genetics, 1999

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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."