Article info

Original research
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

Authors

  1. Correspondence to Professor Dominique P Germain, French Referral Centre for Fabry disease, Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France; dominique.germain{at}uvsq.fr
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Citation

Germain DP, Oliveira JP, Bichet DG, et al
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

Publication history

  • Received August 2, 2019
  • Revised December 13, 2019
  • Accepted January 3, 2020
  • First published March 11, 2020.
Online issue publication 
July 23, 2020

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