{"id":"W1992852302","doi":"10.1002/humu.20231","title":"Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility","year":2005,"lang":"en","type":"article","venue":"Human Mutation","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":127,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"RYR1; Malignant hyperthermia; Biology; Genetics; Genotype; Myopathy; Pathology; Gene; Medicine; Ryanodine receptor","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003006409,0.00009496845,0.0001154867,0.00004670658,0.0001452592,0.00001793445,0.0000301724,0.0001635485,0.0001894841],"category_scores_gemma":[0.00006913883,0.00008501498,0.00003277369,0.0000476893,0.0001504289,0.00001170741,0.00003130501,0.00009681124,0.00001849268],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002471474,"about_ca_system_score_gemma":0.00002044265,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009033663,"about_ca_topic_score_gemma":0.0001148161,"domain_scores_codex":[0.9991007,0.0001207029,0.000286915,0.0003090241,0.00007399775,0.0001086154],"domain_scores_gemma":[0.9996807,0.00004212041,0.00008076806,0.00007722705,0.00005900909,0.00006019334],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004146851,0.0005106812,0.789192,0.00002410004,0.0001142003,0.000004934986,0.0002992856,0.002407787,0.1275104,0.001548562,0.004351227,0.07362208],"study_design_scores_gemma":[0.001058313,0.0002669688,0.9886259,0.000003862628,0.00003949863,0.000007814702,0.00006456589,0.001895515,0.0008061684,0.0004441865,0.006642712,0.0001444665],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969475,0.0002697794,0.001798991,0.0002920608,0.0001200632,0.0001810358,0.000003556949,0.00001817998,0.0003688469],"genre_scores_gemma":[0.9981381,0.00008084865,0.0003289103,0.0002091747,0.0005077752,0.00001131193,0.0002432997,0.000007452481,0.0004730831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1994339,"threshold_uncertainty_score":0.346681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0593638740147339,"score_gpt":0.3323035070059395,"score_spread":0.2729396329912055,"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."}}