Genetic & Genomic MedicinemedRxivPreprint
Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome
Tzung‐Chien Hsieh, Dylan Todd, Taylor Warner…·Bharatendu Chandra
The paper reclassifies a variant of uncertain significance as likely pathogenic in Mowat-Wilson syndrome using next-generation phenotyping and multimodal data integration.