Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.Q41_G42Splc
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ACTB

NM_001101.5:p.Q41_G42Splc

Associated Papers

Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.

Sawangareetrakul P et al.

Biomedical Reports, 2021

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

Aflaki E et al.

Neurobiology of Disease, 2020

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.

Zhao H et al.

Clinical Genetics, 2003

Mutations in CHEK2 associated with prostate cancer risk.

Dong X et al.

American Journal of Human Genetics, 2003

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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."