Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

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Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

P2860

Q50036814-9E23A625-5E1E-44AB-AF65-76307C57AD93

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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

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http://www.wikidata.org/entity/Q47165368

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

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Item

label

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

@en

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

@nl

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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

@en

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

@nl

P1476

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

@en

P2093

Ada Chan

http://www.w3.org/2001/XMLSchema#string

Adam Shlien

http://www.w3.org/2001/XMLSchema#string

Berge A Minassian

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Cecil D Hahn

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Christian R Marshall

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Cyrus Boelman

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Dimitri J Stavropoulos

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Giovanna Pellecchia

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James Drake

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Ledia Brunga

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P2860

Analysis of conditional heterozygous STXBP1 mutations in human neurons

Somatic mutation, genomic variation, and neurological disease

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

A survey of human brain transcriptome diversity at the single cell level.

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Pre-existing astrocytes form functional perisynaptic processes on neurons generated in the adult hippocampus.

Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine

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e199

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scholarly article

P356

10.1212/NXG.0000000000000199

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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Marc Woodbury-Smith

Cynthia Hawkins

Stephen W. Scherer

P577

2017-12-18T00:00:00Z

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29264391

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5735305

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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

about

P2860

P2860

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932