{"id":"W4282598113","doi":"10.1038/s41467-022-31088-8","title":"Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Toronto General Hospital; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; National Institutes of Health; Government of Canada; National Institute of Arthritis and Musculoskeletal and Skin Diseases; U.S. Department of Health and Human Services","keywords":"Malignant hyperthermia; Genetics; Biology; Medicine; Cancer research; Pathology","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":[0.0001437251,0.0008015755,0.0003419712,0.0006582726,0.0003812759,0.0003235651,0.0002151288,0.0007373042,0.002990822],"category_scores_gemma":[0.000881659,0.0001421299,0.0004268003,0.000513588,0.000467564,0.0001679046,0.0004943379,0.0004894753,0.0003411527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000147272,"about_ca_system_score_gemma":0.0001106323,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008853788,"about_ca_topic_score_gemma":0.0009766425,"domain_scores_codex":[0.9997618,0.00003316858,0.00002981352,0.00007024829,0.00007029299,0.00003472412],"domain_scores_gemma":[0.9995875,0.0001147752,0.0001442246,0.00002675972,0.00003223756,0.00009446922],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002965035,0.0002330505,0.4076545,0.0003027246,0.0006098617,0.1744498,0.001542095,0.001775942,0.3739272,0.002363552,0.002472414,0.0317038],"study_design_scores_gemma":[0.0001361002,0.0005328055,0.8089714,0.0001175486,0.0003735122,0.1485516,0.0005570112,0.002256149,0.02917338,0.001657654,0.00760412,0.00006869488],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995629,0.0004072741,0.001802964,0.0001641924,0.00003759684,0.00002572827,0.0006531524,0.00004011005,0.001239975],"genre_scores_gemma":[0.998145,0.0001692675,0.0007251641,0.00007362553,0.00004151746,0.000007234923,0.0003637742,0.00002013206,0.0004542852],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002990822,"threshold_uncertainty_score":0.01000524,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01764054264496551,"score_gpt":0.2600401914754005,"score_spread":0.242399648830435,"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."}}