Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.S17F
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SHARPIN

NM_030974.4:p.S17F

Associated Papers

Involvement of heterologous ubiquitination including linear ubiquitination in Alzheimer's disease and amyotrophic lateral sclerosis.

Sato Y et al.

Frontiers in Molecular Biosciences, 2023

SHARPIN: Role in Finding NEMO and in Amyloid-Beta Clearance and Degradation (ABCD) Pathway in Alzheimer's Disease?

Krishnan D et al.

Cellular and Molecular Neurobiology, 2022

A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.

Asanomi Y et al.

Journal of Human Genetics, 2022

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

de Rojas I et al.

Nature Communications, 2021

A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer's disease.

Asanomi Y et al.

Molecular Medicine (cambridge, Mass.), 2019

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F et al.

The Journal of Allergy and Clinical Immunology, 2015

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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."