{"id":"W2297731194","doi":"10.1002/jbmr.2834","title":"Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum","year":2016,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Uppsala Multidisciplinary Center for Advanced Computational Science; Science for Life Laboratory; European Society for Paediatric Research; Vetenskapsrådet; European Society for Paediatric Endocrinology; Stockholms Läns Landsting; Karolinska Institutet; European Society of Endocrinology","keywords":"Medicine; Missense mutation; Osteoporosis; Short stature; Sanger sequencing; Exome sequencing; Hearing loss; Kyphosis; Nonsense mutation; Genetics; Pediatrics; Mutation; Internal medicine; Gene; Surgery; Biology; Audiology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001173116,0.001668585,0.0005114356,0.0007552365,0.000505207,0.0002930832,0.0002973415,0.0006227184,0.002439668],"category_scores_gemma":[0.0005620436,0.0002219376,0.0004000276,0.0006646066,0.0004462107,0.0001542098,0.0004842343,0.0003486983,0.0003810864],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002068143,"about_ca_system_score_gemma":0.0002849509,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001438793,"about_ca_topic_score_gemma":0.002020737,"domain_scores_codex":[0.9997788,0.0000232964,0.00002647766,0.0000663887,0.00006667702,0.00003838522],"domain_scores_gemma":[0.9997651,0.00005483445,0.0000656866,0.00001067608,0.00002277067,0.00008098598],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005208908,0.0001789419,0.1337438,0.000235741,0.0001926416,0.5396993,0.001296038,0.0004136731,0.2997212,0.0005827809,0.001915765,0.02149929],"study_design_scores_gemma":[0.0001729641,0.0003688669,0.2159227,0.00006123148,0.0001813546,0.7516491,0.0002579505,0.0008678717,0.02565091,0.0002522384,0.00457415,0.00004056954],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964786,0.0003718669,0.0010062,0.0001089245,0.00001449592,0.00002466499,0.0003307907,0.00009817857,0.001566223],"genre_scores_gemma":[0.9977317,0.0001955173,0.0009665394,0.0001152222,0.00003692308,0.00001804514,0.0003536893,0.00003179388,0.0005506123],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002439668,"threshold_uncertainty_score":0.008161545,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02771426297109823,"score_gpt":0.3203693244511521,"score_spread":0.2926550614800539,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}