Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease



Alankarage, Dimuthu and Szot, Justin O and Pachter, Nick and Slavotinek, Anne and Selleri, Licia and Shieh, Joseph T and Winlaw, David and Giannoulatou, Eleni and Chapman, Gavin and Dunwoodie, Sally L (2019) Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. ISSN 0964-6906

Link to published document: http://doi.org/10.1093/hmg/ddz231

Abstract

Metadata

Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 19 Nov 2019 04:20
Last Modified: 19 Nov 2019 04:20