Varaico: Literature-Extracted Genetic Variants

Gene:GATAD2B
Variant:p.Q470*
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GATAD2B

NM_020699.4:p.Q470*

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability.

Nikam V et al.

Journal of Genetics, 2021

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Pierson TM et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature.

Trubnykova M et al.

Molecular Syndromology, 2019

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

Luo X et al.

Journal of Human Genetics, 2017

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ et al.

Nature Communications, 2014

25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Willemsen MH et al.

Journal of Medical Genetics, 2013

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J et al.

The New England Journal of Medicine, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."