Novel pathogenic WHRN variant causing hearing loss in a moroccan family

CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8

Source: Mol Biol Cell - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research