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Article

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

Journal of genetics - 1 Jan 2021

Nikam Vidya, Shaik Mohammad Naushad

Abstract excerpt

Intellectual disability (ID) is a neurodevelopmental disorder in which genetics play a key aetiological role. GATA zinc finger domain-containing 2B (GATAD2B) gene encodes a zinc-finger protein transcriptional repressor which is a part of the methyl-CpG binding protein-1 complex. Pathogenic variants in this gene are linked to ID, dysmorphic features, and cognitive disability. To date, only 18 cases are reported...

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PMID: 34470925

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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