No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.
Irene CapelliRoberta Di CostanzoValeria AielloSarah LerarioPaola De GiovanniMarcello MontevecchiDavide CerretaniVincenzo DonadioGaetano La MannaRenzo MignaniPublished in: Molecular genetics & genomic medicine (2024)
This case underscores the importance of a comprehensive evaluation of new variants of unknown significance to establish their pathogenicity accurately.