{"id":"W2752131276","doi":"10.1159/000479672","title":"Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations","year":2017,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre Hospitalier Universitaire Sainte-Justine; Shriners Hospitals for Children - Canada; Montreal Children's Hospital","funders":"","keywords":"Medicine; Dysplasia; Genetics; Joint (building); Biology; Internal medicine","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":[0.0003562871,0.001993717,0.0006538748,0.001254458,0.00190487,0.0006992142,0.0005526873,0.001626146,0.002734307],"category_scores_gemma":[0.002033257,0.0008245116,0.0007577632,0.000681538,0.001313753,0.0004966974,0.001173454,0.0009504686,0.0004972083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005671957,"about_ca_system_score_gemma":0.0005701678,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003238132,"about_ca_topic_score_gemma":0.00330485,"domain_scores_codex":[0.9993597,0.0001047108,0.00007626283,0.0001869795,0.0001564627,0.0001160118],"domain_scores_gemma":[0.9992526,0.0002015952,0.0001729629,0.00003368287,0.00006267455,0.0002764455],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001031673,0.0001358613,0.06519139,0.00005440165,0.00005413088,0.9105613,0.00249818,0.0002684268,0.01645149,0.0003907284,0.0003985975,0.003892398],"study_design_scores_gemma":[0.00004610373,0.0002239717,0.05091602,0.00003029095,0.00007044147,0.9428217,0.0005713148,0.0004273898,0.003561152,0.0002619603,0.001034131,0.00003549842],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969751,0.0002254638,0.0008266801,0.0002335241,0.00003450128,0.00003653541,0.0001198709,0.00004321781,0.001505224],"genre_scores_gemma":[0.9984616,0.000116559,0.0005673771,0.0001242073,0.00002952651,0.00001514035,0.00005854278,0.00001904209,0.0006079466],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003238132,"threshold_uncertainty_score":0.009147167,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01837351088973342,"score_gpt":0.2820027460839015,"score_spread":0.2636292351941681,"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."}}