{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006973515,0.0004951454,0.0003943983,0.001513949,0.0003331263,0.0003242173,0.0002668809,0.0005533809,0.002605053],"category_scores_gemma":[0.004425902,0.0002204497,0.0002770725,0.000563464,0.0005328732,0.0003099405,0.0004068965,0.0003466647,0.0004019421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001462025,"about_ca_system_score_gemma":0.0001771403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006966359,"about_ca_topic_score_gemma":0.0004764648,"domain_scores_codex":[0.9992338,0.0002604603,0.0000942394,0.0001735108,0.0001437432,0.00009415262],"domain_scores_gemma":[0.997071,0.001360504,0.0007500701,0.0002194342,0.0002322539,0.0003666247],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002457405,0.00002893784,0.9935216,0.000009231931,0.00004673563,0.001017125,0.0001054066,0.000135192,0.003339107,0.0000478878,0.00003528076,0.001467653],"study_design_scores_gemma":[0.000005623163,0.0001504232,0.9946408,0.000004566806,0.0000351094,0.003980557,0.00009979166,0.0002953635,0.0005809447,0.0000612348,0.0001404486,0.00000500271],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990906,0.0002084811,0.000238975,0.00002010119,0.000003473029,0.000006232635,0.00007235892,0.000004453045,0.0003553917],"genre_scores_gemma":[0.9996835,0.00004628132,0.0001171388,0.000007130239,0.000005789384,0.000003822523,0.00005709364,0.000003046939,0.00007611263],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002605053,"threshold_uncertainty_score":0.008714736,"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."}}