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2013
Mark Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey and Thomas, Sophie , et al. (2013) In European Journal of Human Genetics 21(10). p.8-1074
- Contribution to journal › Article