{"id":"W1484475752","doi":"10.1111/j.1399-0004.2005.00447.x","title":"LMNA mutation position predicts organ system involvement in laminopathies","year":2005,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":91,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; Western University","funders":"Canada Research Chairs","keywords":"LMNA; Mutation; Position (finance); Genetics; Medicine; Biology; Gene","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":[0.001193593,0.0002788773,0.0002267587,0.001136282,0.0004356619,0.0004197045,0.0003227517,0.0005001418,0.003452505],"category_scores_gemma":[0.00535224,0.0002401821,0.0002880852,0.0004694849,0.0005908934,0.0003551617,0.0005688291,0.0005046341,0.0005348086],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001591231,"about_ca_system_score_gemma":0.000202314,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00121569,"about_ca_topic_score_gemma":0.001892789,"domain_scores_codex":[0.9992944,0.0002793056,0.00007667688,0.0001431034,0.0001249223,0.00008151678],"domain_scores_gemma":[0.9946596,0.002521106,0.001572421,0.0003807899,0.0002582094,0.0006078194],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003417304,0.00002221909,0.9925879,0.00001288546,0.00004953507,0.0001211036,0.00005579952,0.0003231451,0.003847225,0.00004530732,0.0000666571,0.002526479],"study_design_scores_gemma":[0.000008528255,0.0001687892,0.9959228,0.000006535473,0.00005275195,0.001066104,0.0001296101,0.001346242,0.0009987107,0.0001864831,0.0001060842,0.000007341956],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991014,0.0001217777,0.0003344957,0.00002674933,0.000003783373,0.000004169577,0.000045319,0.000008454984,0.0003538266],"genre_scores_gemma":[0.9995328,0.0000296769,0.0002716312,0.000004937389,0.000004095559,0.00000184959,0.00006672689,0.000003117158,0.00008519024],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003452505,"threshold_uncertainty_score":0.01154977,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01604872656040328,"score_gpt":0.283372688328657,"score_spread":0.2673239617682537,"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."}}