Litcius/Paper detail

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

Julie A. Jurgens, Brenda J. Barry, Gabrielle Lemire, Wai‐Man Chan, Mary C. Whitman, Sherin Shaaban, Caroline D. Robson, Sarah MacKinnon, Eleina England, Hugh J. McMillan, Christopher E. Kelly, Brandon M. Pratt, Anne O’Donnell‐Luria, Daniel G. MacArthur, Kym M. Boycott, David G. Hunter, Elizabeth C. Engle

2021European Journal of Human Genetics30 citationsDOIOpen Access PDF

Topics & Concepts

ProbandMissense mutationBiologyExome sequencingGeneticsMutationGeneMicrotubule and mitosis dynamicsCellular transport and secretionGenetics and Neurodevelopmental Disorders
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development | Litcius