POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
POLR1A 变异是颅面、神经和心脏异常表型异质性的基础
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.03.014
Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Debora R Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R Gallagher, Maria J Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussman