Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.D472N
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PLG

NM_000301.5:p.D472N

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

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

Brito-Robinson T et al.

Frontiers in Cardiovascular Medicine, 2024

Case Report: Respiratory lesions successfully treated with intravenous plasminogen, human-tvmh, replacement therapy in four patients with plasminogen deficiency type 1.

Nakar C et al.

Frontiers in Pediatrics, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

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

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1

Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review.

Xu L et al.

Ophthalmic Genetics, 2021

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

Genetic defects in fungal recognition and susceptibility to invasive pulmonary aspergillosis.

Cunha C et al.

Medical Mycology, 2019

Hereditary angioedema with a mutation in the plasminogen gene.

Bork K et al.

Allergy, 2018

Treatment of plasminogen deficiency patients with fresh frozen plasma.

Kızılocak H et al.

Pediatric Blood & Cancer, 2018

A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Mack S et al.

Journal of Lipid Research, 2017

28512139 (PubMed )
Supplement: 10.1194_M076232_jlr.M076232-1.pdf

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD et al.

G3 (bethesda, Md.), 2016

27194806 (PubMed )
Supplement: supp_g3.116.030841_TableS5.pdf

IL1B and DEFB1 Polymorphisms Increase Susceptibility to Invasive Mold Infection After Solid-Organ Transplantation.

Wójtowicz A et al.

The Journal of Infectious Diseases, 2015

Genetic variants and the risk for invasive mould disease in immunocompromised hematology patients.

van der Velden WJ et al.

Current Opinion in Infectious Diseases, 2011

Genetic susceptibility to aspergillosis in allogeneic stem-cell transplantation.

Cunha C et al.

Medical Mycology, 2011

Genetic variability of innate immunity impacts human susceptibility to fungal diseases.

Carvalho A et al.

International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2010

Plasminogen alleles influence susceptibility to invasive aspergillosis.

Zaas AK et al.

Plos Genetics, 2008

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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."