Associated Papers
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.
Tang Y et al.
Archives of Rheumatology, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Bisgin A et al.
Scientific Reports, 2021
33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM3_ESM.pdf
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