Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

Abstract In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diag...

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Détails bibliographiques
Auteurs principaux:	Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman
Format:	article
Langue:	EN
Publié:	Nature Portfolio 2021
Sujets:	Medicine R Genetics QH426-470
Accès en ligne:	https://doaj.org/article/28825eb4a8ee44ae8a4339e8b884b577
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!

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