Associated Papers
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
40765928 (PubMed )
Supplement: BVTH_VTH-2024-000154-mmc1.pdf
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.
Acar IE et al.
Investigative Ophthalmology & Visual Science, 2023
37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
34260947 (PubMed )
Supplement: mmc2.xlsx › ST14
Complement Regulatory Genetic Mutations in the Setting of Autoimmune Thrombotic Thrombocytopenic Purpura: A Case Series.
Atrash S et al.
Mayo Clinic Proceedings. Innovations, Quality & Outcomes, 2018
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Stray-Pedersen A et al.
Journal of Clinical Immunology, 2014
Complement factor H related proteins (CFHRs).
Skerka C et al.
Molecular Immunology, 2013
Increasing evidence that genetic variation in complement factor H related 5 (CFHR5) causes disease: a commentary on 'Atypical haemolytic uremic syndrome and genetic aberrations in the complement factor-H-related 5 gene'.
Maxwell PH
Journal of Human Genetics, 2012
Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
Barber LJ et al.
Plos One, 2011
21750719 (PubMed )
Supplement: pone.0021639.s006.xls › Sheet1
Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.
Narendra U et al.
Molecular Vision, 2009
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