Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.R253H
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PLG

NM_000301.5:p.R253H

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

Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy.

Dirim AB et al.

Nephron, 2024

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

Brito-Robinson T et al.

Frontiers in Cardiovascular Medicine, 2024

Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer.

Wong K et al.

Genome Biology, 2023

37635261 (PubMed )
Supplement: 13059_2023_3026_MOESM3_ESM.xlsx › Table_S2

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

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_

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

Xu L et al.

Ophthalmic Genetics, 2021

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ et al.

Translational Psychiatry, 2020

32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1

Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea.

Cheong HI et al.

Journal of Korean Medical Science, 2016

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
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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."