Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?
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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.
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Authors: Ralyath Balogoun, Margaux Serey‐Gaut, Laurence Jonard, Sandrine Marlin
Institutions: Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Institut des Maladies Génétiques Imagine