Varaico: Literature-Extracted Genetic Variants

Gene:GATAD2B
Variant:p.Q237*
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GATAD2B

NM_020699.4:p.Q237*

Associated Papers

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

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

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.

Rabin R et al.

American Journal of Medical Genetics. Part A, 2018

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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."