Varaico: Literature-Extracted Genetic Variants

Gene:GATAD2B
Variant:p.R116*
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GATAD2B

NM_020699.4:p.R116*

Associated Papers

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.

Ganesan S et al.

Biorxiv : the Preprint Server for Biology, 2025

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

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

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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."