Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A161S
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FH

NM_000143.4:p.A161S

Associated Papers

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

34189567 (PubMed )
Supplement: 10.1182-2021012037_bloodbld2021012037-suppl1.pdf

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.

Wong EKS et al.

Frontiers in Immunology, 2020

33519811 (PubMed )
Supplement: DataSheet_1.pdf

Hemolytic uremic syndrome associated with Bordetella pertussis infection in a 2-month-old infant carrying a pathogenic variant in complement factor H.

Madden I et al.

Pediatric Nephrology (berlin, Germany), 2019

Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.

Schramm EC et al.

Blood, 2015

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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."