Associated Papers
A scalable approach to resolving variants of uncertain significance.
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Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Structure-function analysis of naturally occurring apolipoprotein A-I L144R, A164S and L178P mutants provides insight on their role on HDL levels and cardiovascular risk.
Gkolfinopoulou C et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014
Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.
Haase CL et al.
Plos Genetics, 2012
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Supplement: pgen.1003063.s004.pdf
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