Mutations in ARID2 are associated with intellectual disabilities.

Mutations in ARID2 are associated with intellectual disabilities.

Item
http://www.wikidata.org/entity/Q30278917
Genomic diagnosis for children with intellectual disability and/or developmental delayIdentification and characterization of a novel DGAT1 missense mutation associated with congenital diarrheaDe novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismMolecular subtyping and improved treatment of neurodevelopmental disease.De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaAn update on the comorbidity of ADHD and ASD: a focus on clinical management.Deep Genetic Connection Between Cancer and Developmental Disorders.Clinical application of whole-exome sequencing across clinical indications.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations.Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.Deletion at 12q12 increases the risk of developmental delay and intellectual disabilityMutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
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Mutations in ARID2 are associated with intellectual disabilities.

Item
http://www.wikidata.org/entity/Q30278917
description
2015 nî lūn-bûn
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2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Mutations in ARID2 are associated with intellectual disabilities.
@ast
Mutations in ARID2 are associated with intellectual disabilities.
@en
type
label
Mutations in ARID2 are associated with intellectual disabilities.
@ast
Mutations in ARID2 are associated with intellectual disabilities.
@en
prefLabel
Mutations in ARID2 are associated with intellectual disabilities.
@ast
Mutations in ARID2 are associated with intellectual disabilities.
@en
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P1476
P2093
P2860
P2888
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P50
P577
P5875
P698
P921
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P1433
P1476
Mutations in ARID2 are associated with intellectual disabilities
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921