{"id":"W4200191708","doi":"10.1002/mgg3.1773","title":"Variable expressivity in a family with an aggrecanopathy","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Osteoarthritis Treatment and Mechanisms","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Shriners Hospitals for Children - Canada","funders":"Shriners Hospitals for Children","keywords":"Osteochondritis dissecans; Proband; Medicine; Frameshift mutation; Aggrecan; Short stature; Anatomy; Genetics; Osteoarthritis; Articular cartilage; Internal medicine; Pathology; Mutation; Biology; Gene","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":[0.0002538605,0.00169125,0.0005148842,0.001598217,0.002485074,0.0004492788,0.0005005269,0.0009340023,0.003856732],"category_scores_gemma":[0.001645041,0.000395927,0.0004426898,0.001131355,0.00106556,0.0004191961,0.000761849,0.0008407704,0.0003458221],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004597959,"about_ca_system_score_gemma":0.0005705196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00326755,"about_ca_topic_score_gemma":0.002931386,"domain_scores_codex":[0.9996076,0.0000538967,0.00003167916,0.0001464612,0.00008323161,0.0000771632],"domain_scores_gemma":[0.9993315,0.0002706978,0.0001368975,0.00002976355,0.00005280559,0.0001784369],"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":[0.0001479532,0.0001466072,0.108493,0.00005449716,0.00005772175,0.8723135,0.001957945,0.0002302495,0.008642003,0.0005966057,0.0006875184,0.006672395],"study_design_scores_gemma":[0.00001822725,0.0001700178,0.05381278,0.00003655882,0.00006417301,0.9414724,0.000503234,0.0002701117,0.001529782,0.0003502888,0.001746082,0.00002648826],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957469,0.0004965707,0.0009162477,0.0003621588,0.00003454078,0.00002639055,0.0002046816,0.00003009616,0.002182496],"genre_scores_gemma":[0.9981142,0.0002625716,0.0005383741,0.0001199266,0.00005465386,0.000009476517,0.000105302,0.00001175515,0.0007837265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003856732,"threshold_uncertainty_score":0.01290202,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0121272203467282,"score_gpt":0.2418554908972676,"score_spread":0.2297282705505394,"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."}}