Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Article
in En
| MEDLINE
| ID: mdl-36137615
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA Copy Number Variations
/
Exome
Type of study:
Diagnostic_studies
/
Observational_studies
/
Screening_studies
Limits:
Humans
Language:
En
Journal:
J Med Genet
Year:
2022
Document type:
Article
Affiliation country:
Country of publication: