(Q41929209)

English

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

scientific article published on 19 October 2014

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scholarly article

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21 February 2020

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (English)

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21 February 2020

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

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21 February 2020

Hans van Bokhoven

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21 February 2020

Koen Van Gassen

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21 February 2020

Joris A Veltman

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21 February 2020

Lisenka Vissers

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21 February 2020

Carlos A Bacino

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Carlos A Bacino

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21 February 2020

Peter M van Hasselt

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Peter van Hasselt

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21 February 2020

Tjitske Kleefstra

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21 February 2020

Marjolein H Willemsen

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21 February 2020

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David Koolen

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21 February 2020

Helger G Yntema

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Helger Yntema

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21 February 2020

Dagmar Wieczorek

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Dagmar Wieczorek

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21 February 2020

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Alma Kuechler

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21 February 2020

Beate Albrecht

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21 February 2020

Dennis W Bartholomew

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21 February 2020

Marie Jose H van den Boogaard

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21 February 2020

Nuria Bramswig

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21 February 2020

Christian Büttner

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21 February 2020

Kirsten Cremer

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21 February 2020

Johanna Christina Czeschik

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21 February 2020

Hartmut Engels

12

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21 February 2020

Elisabeth Graf

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21 February 2020

Mieke van Haelst

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21 February 2020

Weimin He

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21 February 2020

Jacob S Hogue

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21 February 2020

Marlies Kempers

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21 February 2020

Glen Monroe

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21 February 2020

Sonja de Munnik

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21 February 2020

Matthew Pastore

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21 February 2020

Miriam S Reuter

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21 February 2020

David H Tegay

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21 February 2020

Gepke Visser

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Eric E J Smeets

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Thomas Wieland

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Willemijn Wissink

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Alexander Michael Zink

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Tim M Strom

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Hermann-Josef Lüdecke

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21 February 2020

publication date

19 October 2014

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21 February 2020

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21 February 2020

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21 February 2020

1

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21 February 2020

97-109

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21 February 2020

https://scigraph.springernature.com/pub.10.1007/s00439-014-1498-1

0 references

Increased seizure susceptibility and cortical malformation in beta-catenin mutant mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Genetics of early onset cognitive impairment

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Congenital hydrocephalus in genetically engineered mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Crystal Structure of a Full-Length β-Catenin

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

β-catenin is critical for dendritic morphogenesis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1498-1

21 January 2018

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://pubmed.ncbi.nlm.nih.gov/25326669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/25326669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-014-1498-1

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21 February 2020

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21 February 2020

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