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
Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge.
Samillán-Sosa Kdel R et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2015
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
Select a paper to view details