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.

Keyphrases

copy number
case report
genome wide
replacement therapy
tyrosine kinase
hypertrophic cardiomyopathy
biofilm formation
heart failure
escherichia coli
gene expression
staphylococcus aureus
left ventricular
cystic fibrosis
candida albicans