Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia
通过全基因组测序进行全面的变异调用，发现了一种复杂的倒位，可破坏家族性先天性膈疝中的 ZFPM2
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.5
doi:10.1002/mgg3.1888
Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez, Michael J Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L Bonkowsky, Martin Tri
