Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock
Journal of Medical Genetics Aug 2020, 57 (8) 542-551; DOI: 10.1136/jmedgenet-2019-106467