%0 Journal Article %A Le Quesne Stabej, Polona %A James, Chela %A Ocaka, Louise %A Tekman, Mehmet %A Grunewald, Stephanie %A Clement, Emma %A Stanescu, Horia %A Kleta, Robert %A Morrogh, Deborah %A Calder, Alistair %A Williams, Hywel %A Bitner-Glindzicz, Maria %D 2017 %T Additional file 2: of An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes %U https://springernature.figshare.com/articles/journal_contribution/Additional_file_2_of_An_example_of_the_utility_of_genomic_analysis_for_fast_and_accurate_clinical_diagnosis_of_complex_rare_phenotypes/4629097 %R 10.6084/m9.figshare.c.3685336_D4.v1 %2 https://ndownloader.figshare.com/files/7532674 %K Next generation sequencing %K Autosomal recessive non-syndromic hearing loss %K PDZD7 %K Osteogenesis imperfecta %K Mosaicism %K COL1A1 C-propeptide cleavage site %X PDZD7 cDNA primers used for Sanger sequencing. (DOCX 14 kb) %I figshare