Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.R261H
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PLG

NM_000301.5:p.R261H

Associated Papers

Plasminogen mutation-associated thrombotic microangiopathy and role of anticoagulation: a single institution case series.

Agarwal S et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families.

Dias de Castro E et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.

Brito-Robinson T et al.

Frontiers in Cardiovascular Medicine, 2024

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM et al.

Journal of Molecular Medicine (berlin, Germany), 2023

Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.

Haydock L et al.

Journal of Molecular Medicine (berlin, Germany), 2022

34714369 (PubMed )
Supplement: 109_2021_2102_MOESM1_ESM.docx

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.

Mathey CM et al.

Frontiers in Genetics, 2022

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Klaassen K et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2020

Multi-omic studies on missense PLG variants in families with otitis media.

Bootpetch TC et al.

Scientific Reports, 2020

The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.

Martin-Fernandez L et al.

Scientific Reports, 2016

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD et al.

G3 (bethesda, Md.), 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeIII
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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."