Articles with "variants extend" as a keyword



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Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

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Published in 2022 at "Cold Spring Harbor Molecular Case Studies"

DOI: 10.1101/mcs.a006180

Abstract: Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in the literature have predominantly… read more here.

Keywords: taok1 associated; etiology; novo variants; variants extend ... See more keywords