Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Renal amyloidosis: an update on diagnosis and pathogenesis.
Gupta N et al.
Protoplasma, 2020
Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.
Zanoni P et al.
Current Opinion in Lipidology, 2020
Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition.
Li D et al.
Bmc Nephrology, 2019
Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature.
Lu C et al.
Medicine, 2017
A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype.
Tougaard BG et al.
European Journal of Medical Genetics, 2016
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014
Mutation mapping of apolipoprotein A-I structure assisted with the putative cholesterol recognition regions.
Dergunov AD
Biochimica Et Biophysica Acta, 2013
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