Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
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Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stressNeurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.Role of MeCP2 in neurological disorders: current status and future perspectives.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Monogenic disorders that mimic the phenotype of Rett syndrome.GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.MeCP2 Deficiency Leads to Loss of Glial Kir4.1.OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.When Rett syndrome is due to genes other than MECP2.Atypical Rett Syndrome and Intractable Epilepsy With Novel Mutation
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 May 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Enrichment of mutations in chr ...... me lacking mutations in MECP2.
@en
Enrichment of mutations in chr ...... me lacking mutations in MECP2.
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type
label
Enrichment of mutations in chr ...... me lacking mutations in MECP2.
@en
Enrichment of mutations in chr ...... me lacking mutations in MECP2.
@nl
prefLabel
Enrichment of mutations in chr ...... me lacking mutations in MECP2.
@en
Enrichment of mutations in chr ...... me lacking mutations in MECP2.
@nl
P2093
P2860
P50
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Enrichment of mutations in chr ...... me lacking mutations in MECP2.
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P2093
Alan K Percy
Daniel G Glaze
Donna M Muzny
Fran Annese
Michael J Friez
Richard A Gibbs
Samin A Sajan
Shalini N Jhangiani
Walter E Kaufmann
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P2888
P356
10.1038/GIM.2016.42
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P577
2016-05-12T00:00:00Z
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1009289086