Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.
作者信息
Potter Amiee B, O'Brien Timothy D, Kulkarni Arpita, McCabe Sarah, Matthews Kathryn, Kovak Karen, Rogers Caleb, Richards C Sue, Moore Stephen
机构信息
Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
Pathology, OHSU, Portland, Oregon, USA.
出版信息
Clin Genet. 2023 Aug;104(2):269-271. doi: 10.1111/cge.14326. Epub 2023 Mar 18.
PMID:36932902
Abstract
摘要
Zotero 插件