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doi.org/10.1038/s41436-019-0747-z

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

..., Tyler Mark Pierson
22
Genetics in Medicine8.80
Volume: 22, Issue: 5, Pages: 878 - 888
Published: May 1, 2020
Abstract
PurposeDetermination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND).MethodsFifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vitro transcription–translation products were used to evaluate GATAD2B missense variants’ ability to interact with binding partners within the nucleosome remodeling and deacetylase (NuRD)...
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Paper Details
Title
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
DOI
doi.org/10.1038/s41436-019-0747-z
Published Date
May 1, 2020
Journal
Genetics in Medicine
Volume
22
Issue
5
Pages
878 - 888
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