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Showing papers by "Gary A. Silverman published in 2021"

Journal Article•DOI•
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.

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Thomas Boulin1, Omar Itani2, Sonia El Mouridi1, Alice Leclercq-Blondel1, Marie Gendrel1, Ellen Macnamara3, Ariane Soldatos3, Jennifer L. Murphy3, Mark P. Gorman4, Anika Lindsey2, Shino Shimada3, Darian Turner2, Gary A. Silverman2, Dustin Baldridge2, May Christine V. Malicdan3, Tim Schedl2, Stephen C. Pak2 •
Claude Bernard University Lyon 11, Washington University in St. Louis2, National Institutes of Health3, Boston Children's Hospital4
09 Aug 2021-Molecular Genetics and Metabolism
TL;DR: In this paper, the authors reported on a NBEA missense variant (c.5899G > A, p.Gly1967Arg) in the Domain of Unknown Function 1088 (DUF1088) identified in a child enrolled in the Undiagnosed Diseases Network (UDN), who presented with neurodevelopmental delay and seizures.

3 citations