Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
作者信息
Farrow Emily, Jay Allison, Means John, Younger Scott, Biswell Rebecca, Koseva Boryana, Thiffault Isabelle, Pastinen Tomi, Pappas Kara, Toriello Helga
机构信息
Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA.
Ascension St. John, Detroit, Michigan, USA.
出版信息
Am J Med Genet A. 2023 Dec;191(12):2908-2912. doi: 10.1002/ajmg.a.63365. Epub 2023 Aug 7.
PMID:37548286
Abstract
摘要
Zotero 插件