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Article

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Human mutation - 1 Aug 2020

Thai Monica H N, Gardner Alison, Redpath Laura, Mattiske Tessa, Dearsley Oliver, Shaw Marie, Vulto-van Silfhout Anneke T, Pfundt Rolph, Dixon Joanne, McGaughran Julie, Pérez-Jurado Luis A, Gécz Jozef, Shoubridge Cheryl

Abstract excerpt

The need to interpret the pathogenicity of novel missense variants of unknown significance identified in the homeodomain of X-chromosome aristaless-related homeobox (ARX) gene prompted us to assess the utility of conservation and constraint across these domains in multiple genes compared to conventional in vitro functional analysis. Pathogenic missense variants clustered in the homeodomain of ARX contribute to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32383243
DOI: 10.1002/humu.24034

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