Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.D291G
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SHARPIN

NM_030974.4:p.D291G

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

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

Asanomi Y et al.

Journal of Human Genetics, 2022

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Han JY et al.

Frontiers in Pediatrics, 2020

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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."