Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
2019-10-17

2019. Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL. Human Molecular Genetics ddz231.