Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing
通过全外显子组测序鉴定出与阿拉吉尔综合征相关的新型JAG1基因c.3080delC突变
期刊:JMIR Bioinformatics and Biotechnology
影响因子:
doi:10.2196/54332
Thomas, Mara; Mackes, Nuria; Preuss-Dodhy, Asad; Wieland, Thomas; Bundschus, Markus; Panwar, Deepak; Lal, Vandana; Thatai, Atul