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Article

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

The journal of gene medicine - 1 Jan 2024

Hussain Syeda Iqra, Muhammad Nazif, Khan Niamatullah, Khan Mobeen, Fardous Fardous, Tahir Raheel, Yasin Muhammad, Khan Sher Alam, Saleha Shamim, Muhammad Noor, Wasif Naveed, Khan Saadullah

Abstract excerpt

BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome (RSTS) and can also be related to conditions such as metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias and neurodegeneration. Rare congenital RSTS1 (OMIM 180849) is characterized by mental and growth retardation, significant and duplicated distal phalanges of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37721116
DOI: 10.1002/jgm.3591

Genes

CREBBP
TANGO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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