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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. (2018)

First Author: Phelps IG

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