Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations

J Chouchen, M Mahfood, M Alobathani… - International Journal of …, 2021 - Elsevier
Background The development of next generation sequencing-based techniques showed an
important progress in the identification of pathogenic variants related to monogenetic …
被引用次数：14 相关文章

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations

J Chouchen, M Mahfood… - … journal of pediatric …, 2021 - pubmed.ncbi.nlm.nih.gov
Background The development of next generation sequencing-based techniques showed an
important progress in the identification of pathogenic variants related to monogenetic …

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations

J Chouchen, M Mahfood, M Alobathani… - … Journal of Pediatric …, 2021 - nchr.elsevierpure.com
Background: The development of next generation sequencing-based techniques showed an
important progress in the identification of pathogenic variants related to monogenetic …

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations.

J Chouchen, M Mahfood, M Alobathani… - International Journal of …, 2020 - europepmc.org
Background The development of next generation sequencing-based techniques showed an
important progress in the identification of pathogenic variants related to monogenetic …