Phenotypic expansion illuminates multilocus pathogenic variation

Karaca, E; Posey, JE; Akdemir, ZC; Pehlivan, D; Harel, T; Jhangiani, SN; Bayram, Y; Song, XF; Bahrambeigi, V; Yuregir, OO; Bozdogan, S; Yesil, G; Isikay, S; Muzny, D; Gibbs, RA; Lupski, JR

Posey, JE; Lupski, JR (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.; Lupski, JR (reprint author), Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.; Lupski, JR (reprint author), Baylor Coll Med, Dept

GENETICS IN MEDICINE, 2018; 20 (12): 1528

Abstract

Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent pheno......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索