Varaico: Literature-Extracted Genetic Variants

Gene:CFHR5
Variant:p.V110A
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CFHR5

NM_030787.4:p.V110A

Associated Papers

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

Martin M et al.

Kidney International Reports, 2024

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

Immunosuppressive Therapy of Antibody-Mediated aHUS and TTP.

Kelen K et al.

International Journal of Molecular Sciences, 2023

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

[Atypical hemolytic uremic syndrome caused by primary complement defects].

Reusz G

Orvosi Hetilap, 2018

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Fidalgo T et al.

Research and Practice in Thrombosis and Haemostasis, 2017

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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."