Publications by authors named "Francesca Barbazza"
Article Synopsis
- Hypophosphatasia (HPP) is a genetic disorder that affects bone and tooth mineralization, caused by variations in the ALPL gene, which complicates diagnosis due to variants of uncertain significance (VUS).*
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- An open-access ALPL gene variant database has been created to help interpret the clinical significance of various ALPL mutations, providing details on their pathogenicity and associated genotypes and phenotypes.*
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- The database supports a project to reclassify VUS by allowing submissions from health professionals and uses a collaboration of experts to follow strict guidelines for a thorough assessment, improving understanding of HPP.*
