Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. (2018)
Attributed to:
METADAC
funded by
ESRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1038/gim.2017.94
PubMed Identifier: 28771248
Publication URI: http://europepmc.org/abstract/MED/28771248
Type: Journal Article/Review
Volume: 20
Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics
Issue: 2
ISSN: 1098-3600