Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. (2016)

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1186/s12881-015-0265-z

PubMed Identifier: 26729329

Publication URI: http://europepmc.org/abstract/MED/26729329

Type: Journal Article/Review

Volume: 17

Parent Publication: BMC medical genetics

ISSN: 1471-2350