Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity
Phelps, Ian G, Dempsey, Jennifer C, Grout, Megan E, Isabella, Christine R, Tully, Hannah M, Doherty, Dan, Bachmann-Gagescu, RuxandraLanguage:
english
Journal:
GENETICS in MEDICINE
DOI:
10.1038/gim.2017.94
Date:
August, 2017
File:
PDF, 1.55 MB
english, 2017