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Article

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.

European journal of medical genetics - 1 Nov 2021

Lesieur-Sebellin Marion, Capri Yline, Grisval Margot, Courtin Thomas, Burtz Augustine, Thevenon Julien, Buratti Julien, Lejeune Elodie, Faivre Laurence, Keren Boris

Abstract excerpt

Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34474177
DOI: 10.1016/j.ejmg.2021.104323

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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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