Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.E16_V17Splc
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RPS27A

NM_002954.6:p.E16_V17Splc

Associated Papers

Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations.

Gąsior-Perczak D et al.

Cancers, 2024

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

The link between the GBA gene and parkinsonism.

Sidransky E et al.

The Lancet. Neurology, 2012

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Aharon-Peretz J et al.

The New England Journal of Medicine, 2004

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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."