Varaico: Literature-Extracted Genetic Variants

Gene:CLU
Variant:p.N317H
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CLU

NM_001831.4:p.N317H

Associated Papers

Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Wightman DP et al.

Scientific Reports, 2023

36750708 (PubMed )
Supplement: 41598_2023_29108_MOESM1_ESM.xlsx › Supp_T11

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

D'Alterio G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S2

Structural Capacitance in Protein Evolution and Human Diseases.

Li C et al.

Journal of Molecular Biology, 2018

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.

Chen SN et al.

Bmc Medical Genetics, 2009

19878569 (PubMed )
Supplement: 1471-2350-10-111-S1.pdf

Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Savas S et al.

Human Genomics, 2006

Insertion/deletion polymorphism in clusterin gene influences serum lipid levels and carotid intima-media thickness in hypertensive Japanese females.

Miwa Y et al.

Biochemical and Biophysical Research Communications, 2005

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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."