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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 Mignani
Published 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.
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