Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleRNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.AuthorsMarshall, Aren E.; Lemire, Gabrielle; Liang, Yijing; Davila, Jorge; Couse, Madeline; Boycott, Kym M.; Kernohan, Kristin D.PublicationAmerican Journal of Medical Genetics. Part A, 2024, Vol 194, Issue 4, p1ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.63485