ARID1B, LYS1777TER

 
National Institutes of Health

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MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

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2017
2017
Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior
Haploinsufficiency of the AT-rich interactive domain 1B (ARID1B) gene causes autism spectrum disorder and intellectual disability… (More)
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Review
2015
Review
2015
ARID1B-mediated disorders: Mutations and possible mechanisms.
Mutations in the gene encoding AT-rich interactive domain-containing protein 1B (ARID1B) were recently associated with multiple… (More)
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2014
2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
BackgroundMutations in genes encoding components of the Brahma-associated factor (BAF) chromatin remodeling complex have recently… (More)
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Review
2014
Review
2014
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.
Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline… (More)
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