Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Bertrand ChesneauThomas EdouardYves DulacHélène ColineauxMaud LangeoisNadine HannaCatherine BoileauPauline ArnaudNicolas ChassaingSophie JuliaGuillaume JondeauAurélie PlanckePhilippe Khau Van KienJulie Plaisancié

Published in: Molecular genetics & genomic medicine (2020)

Therefore, this report brings additional data for the genotype-phenotype correlations of SMAD3 variants and the need to explore in more detail the effects of genetic modifiers that could influence the phenotype.

Keyphrases

copy number
epithelial mesenchymal transition
electronic health record
transforming growth factor
genome wide
big data
gene expression
machine learning
deep learning