{"id":"W2915892951","doi":"10.1172/jci.insight.126180","title":"Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2","year":2019,"lang":"en","type":"article","venue":"JCI Insight","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Barncancerfonden; Sigrid Juséliuksen Säätiö; Samfundet Folkhälsan; Novo Nordisk; Deutsche Forschungsgemeinschaft; Allgemeine Unfallversicherungsanstalt; Helsingin Yliopisto; Folkhälsanin Tutkimussäätiö; Minerva Foundation; Novo Nordisk Fonden; Lastentautien Tutkimussäätiö; Academy of Finland; National Center for Advancing Translational Sciences; Sahlgrenska Universitetssjukhuset; Vetenskapsrådet","keywords":"Endocrinology; Missense mutation; Internal medicine; Osteoporosis; Bone remodeling; Exome sequencing; Medicine; Biology; Phenotype; Genetics; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002282745,0.001317429,0.000403522,0.0009166246,0.0005874971,0.0002838869,0.0001963898,0.001106656,0.001837079],"category_scores_gemma":[0.0008434649,0.000314165,0.0003814306,0.0005976463,0.0007845441,0.0001238723,0.0004322267,0.0003895002,0.0003319631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002264551,"about_ca_system_score_gemma":0.0002562365,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001764421,"about_ca_topic_score_gemma":0.00202463,"domain_scores_codex":[0.9997532,0.00004975942,0.00002587844,0.00006346869,0.00007019464,0.00003757959],"domain_scores_gemma":[0.999733,0.00007577338,0.00009654618,0.00001374949,0.00001710012,0.00006390867],"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":[0.001980281,0.0001834273,0.3497447,0.0002363388,0.0002846888,0.433687,0.0006573079,0.0007572241,0.1946802,0.0007233001,0.0009941963,0.01607147],"study_design_scores_gemma":[0.0002788781,0.0005833386,0.4673201,0.00008431324,0.0002356106,0.5090541,0.0002050255,0.001491148,0.01713878,0.001016284,0.002553408,0.00003903186],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981288,0.0004788754,0.0003452078,0.00008137954,0.00001044442,0.0000151488,0.0001204065,0.00002581588,0.0007938981],"genre_scores_gemma":[0.9989943,0.0001861159,0.0003843855,0.00005159008,0.00002443552,0.000006278632,0.0001504614,0.000006625249,0.0001958528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001837079,"threshold_uncertainty_score":0.006145656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005105641953175439,"score_gpt":0.2103380967822035,"score_spread":0.205232454829028,"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."}}