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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis (2021)

First Author: Hyder Z

Attributed to: Uncovering new mechanisms of craniosynostosis associated with structural and copy number variation, using mouse modelling and human neural crest cells funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41436-021-01297-5

PubMed Identifier: 34429528

Publication URI: http://europepmc.org/abstract/MED/34429528

Type: Journal Article/Review

Parent Publication: Genetics in Medicine

Issue: 12

ISSN: 1098-3600