Related Experiment Video
Updated: Aug 29, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible
Ralyath Balogoun1, Margaux Serey-Gaut1, Laurence Jonard1
1Centre de Référence "Surdités Génétiques", Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Clinical Genetics
|August 28, 2026
Abstract:
As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.
