Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5
Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2023
Genomic Evolution in a Patient With Lung Adenocarcinoma With a Germline EGFR T790M Mutation.
Mäkinen N et al.
Jto Clinical and Research Reports, 2021
34590005 (PubMed )
Supplement: mmc2.xlsx › SNVs_and_indel_calls
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 2019
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
Delvaeye M et al.
The New England Journal of Medicine, 2009
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