{"id":"W2119231017","doi":"10.1186/1750-1172-8-63","title":"The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; McMaster University Medical Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Manton Center for Orphan Disease Research, Boston Children's Hospital; University of Toronto; Université de Montréal; Ontario Genomics Institute; Genome British Columbia; Institute of Genetics; National Institutes of Health; Ontario Genomics; Genome Canada; Government of Canada; McGill University; University of Ottawa","keywords":"Exon; Phenotype; Human genetics; Genetics; Short stature; Mutation; Biology; Genotype; Cohort; Genetic testing; Medicine; Gene; Internal medicine; Endocrinology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001861739,0.0007163153,0.0003706104,0.0008234535,0.000368758,0.0002296236,0.0001908547,0.0003855483,0.002309755],"category_scores_gemma":[0.001064805,0.0002692624,0.0002006174,0.0003102654,0.0004726915,0.0001761195,0.0004840555,0.0001943758,0.0003326531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001462569,"about_ca_system_score_gemma":0.0001299297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001505983,"about_ca_topic_score_gemma":0.001363081,"domain_scores_codex":[0.9998247,0.00002309762,0.00001954587,0.00005510225,0.000031236,0.00004635788],"domain_scores_gemma":[0.9997075,0.00008832102,0.00007002656,0.00002124377,0.00002334545,0.00008949583],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004973119,0.0001243026,0.925995,0.00004101231,0.00005095933,0.04309851,0.00166062,0.000217883,0.01973222,0.00008400058,0.0003005888,0.00819758],"study_design_scores_gemma":[0.00005161337,0.0007596963,0.9347162,0.00001532963,0.00004910402,0.06168281,0.0006112711,0.0002344599,0.001145147,0.00006636554,0.0006480622,0.00001992258],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996486,0.00005543622,0.00009042335,0.000006769473,0.000001766069,0.000007509542,0.00005051604,0.000002518881,0.0001364484],"genre_scores_gemma":[0.9995541,0.00003720931,0.0001112805,0.0000132986,0.000003820301,0.00000864071,0.0001072713,0.000001865549,0.0001624749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002309755,"threshold_uncertainty_score":0.007726967,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009146179924821151,"score_gpt":0.250571320409074,"score_spread":0.2414251404842529,"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."}}