Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.
Rebeca ValeroMarta de Castro-MiróSofía Jiménez-OchoaJuan José Rodríguez-EzcurraGemma MarfanyRoser Gonzàlez-DuartePublished in: Genes (2019)
A combination of in vivo and in vitro assays provided a comprehensive view of the physiological effects of NCSS variants, which in this case led to a clinical reassignment of the proband as affected with atypical USH1 syndrome.
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