Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleShortfall of exome analysis for diagnosis of Shwachman‐Diamond syndrome: Mismapping due to the pseudogene SBDSP1.AuthorsYamada, Mamiko; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Inui, Ayano; Ikemiyagi, Masako; Kamimaki, Isamu; Kosaki, KenjiroPublicationAmerican Journal of Medical Genetics. Part A, 2020, Vol 182, Issue 7, p1631ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.61598