Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.G70R
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PSEN2

NM_000447.3:p.G70R

Associated Papers

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Mesaros M et al.

Genes, 2021

35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf

Detection of dysregulated protein-association networks by high-throughput proteomics predicts cancer vulnerabilities.

Lapek JD et al.

Nature Biotechnology, 2017

28892078 (PubMed )
Supplement: NIHMS73743-supplement-Supplementary_tables.zip › Supplementary_Table_10_Proteins_with_Nonsense_Mutations_26_Breast_Cancer_Cell_Lines.xlsx › Sheet2

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

Wojtas A et al.

American Journal of Neurodegenerative Disease, 2012

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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."