{"id":"W2893386739","doi":"10.1177/2324709618802867","title":"Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial <i>MTTK</i> c.8344A&gt;G Variant","year":2018,"lang":"en","type":"article","venue":"Journal of Investigative Medicine High Impact Case Reports","topic":"Body Contouring and Surgery","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research; Genome Canada; Heart and Stroke Foundation of Canada","keywords":"Family history; Pedigree chart; Genetic counseling; Mitochondrial DNA; Medicine; Genetics; Pediatrics; Biology; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001701144,0.001165712,0.0004571555,0.001185486,0.006692309,0.0006326697,0.001028619,0.001060483,0.003674509],"category_scores_gemma":[0.001173748,0.0004438863,0.0004259252,0.002032788,0.001257963,0.000294744,0.001064187,0.001017138,0.0002950097],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.009430025,"about_ca_system_score_gemma":0.01331154,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9110572,"about_ca_topic_score_gemma":0.9518266,"domain_scores_codex":[0.9995851,0.00001857106,0.00001648842,0.00009800698,0.0001489604,0.0001329288],"domain_scores_gemma":[0.9994786,0.00006568594,0.00006555402,0.00002016526,0.0001241153,0.0002458341],"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":[0.0003218648,0.0002120376,0.2336383,0.0001741885,0.0001031579,0.7055144,0.009331614,0.000611135,0.01499431,0.001663503,0.005502086,0.02793347],"study_design_scores_gemma":[0.0000854423,0.0002236765,0.4054135,0.0001636972,0.0001781852,0.5737201,0.005822887,0.001470056,0.001805077,0.0006368238,0.01030489,0.0001755605],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904193,0.0006467272,0.0005093209,0.001141134,0.00004473549,0.00009441087,0.0006207441,0.0000426869,0.006480994],"genre_scores_gemma":[0.9964262,0.0004369865,0.0008731665,0.000314177,0.00001942344,0.00001133943,0.000167995,0.00001757592,0.001733121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08894277,"threshold_uncertainty_score":0.1789331,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02121437316941164,"score_gpt":0.2627391543818686,"score_spread":0.241524781212457,"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."}}