Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis

Background Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or deletion of DNA segments, are particularly impactful on genes c...

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Egile Nagusiak:	Raniah Saleem Alotibi, Mariam M. Al Eissa, Taghrid Aloraini, Khalidah Khalid Nasser, Muneera J. Al Shammari, Amerh S. Alqahtani
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wolters Kluwer Medknow Publications 2024-10-01
Saila:	Saudi Journal of Medicine and Medical Sciences
Gaiak:	array copy number variant exome sequencing foxp1 variant of unknown significance
Sarrera elektronikoa:	https://journals.lww.com/10.4103/sjmms.sjmms_155_24
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!