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Article

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

American journal of human genetics - 2 Mar 2017

Tawamie Hasan, Martianov Igor, Wohlfahrt Natalie, Buchert Rebecca, Mengus Gabrielle, Uebe Steffen, Janiri Luigi, Hirsch Franz Wolfgang, Schumacher Johannes, Ferrazzi Fulvia, Sticht Heinrich, Reis André, Davidson Irwin, Colombo Roberto, Abou Jamra Rami

Abstract excerpt

In two independent consanguineous families each with two children affected by mild intellectual disability and microcephaly, we identified two homozygous missense variants (c.119T>A [p.Met40Lys] and c.92T>A [p.Leu31His]) in TATA-box-binding-protein-associated factor 13 (TAF13). Molecular modeling suggested a pathogenic effect of both variants through disruption of the interaction between TAF13 and TAF11. These...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28257693
DOI: 10.1016/j.ajhg.2017.01.032
PMCID: PMC5339287

Genes

TAF13
TAF11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.PMID 28257693Read ↗

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