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◆ Clinical Genetics2026-08-28· Genetics

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?

Ralyath Balogoun, Margaux Serey‐Gaut, Laurence Jonard, Sandrine Marlin

原始摘要(英文原文)· Original 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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Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge? — 科研速览 Science Skim