{"id":"W3091291416","doi":"10.1016/j.nmd.2020.08.005","title":"NEW GENES IN NEUROMUSCULAR DISEASES","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto General Hospital; Hospital for Sick Children","funders":"","keywords":"RYR1; Malignant hyperthermia; Compound heterozygosity; Skeletal muscle; Internal medicine; Ryanodine receptor; Rhabdomyolysis; Biology; Endocrinology; Genetics; Medicine; Gene; Mutation; Pathology; 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":[0.00003485904,0.0001805147,0.0001380432,0.00005390342,0.00005030097,0.00003723515,0.0001682504,0.00009441884,0.0000910851],"category_scores_gemma":[0.0001123992,0.0001884861,0.0001731485,0.0002448765,0.0000308334,0.00001262255,0.00007746242,0.00009089047,0.00003241036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005369971,"about_ca_system_score_gemma":0.0000595901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002476541,"about_ca_topic_score_gemma":0.00003311418,"domain_scores_codex":[0.9988282,0.00008660157,0.0001882334,0.0004813546,0.0001874064,0.0002282586],"domain_scores_gemma":[0.9994643,0.000005939085,0.00004365795,0.0002496733,0.0000223976,0.0002140003],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001085098,0.0005555412,0.1535,0.0002416707,0.0002084699,0.0000761525,0.0005884888,0.06521314,0.5198343,0.001072897,0.04879302,0.2088312],"study_design_scores_gemma":[0.003159835,0.000678042,0.126731,0.00001123589,0.00005202452,0.000007094071,0.0001629916,0.004763255,0.009048156,0.0002782061,0.8543912,0.0007169269],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.954165,0.003024732,0.03306104,0.007169948,0.0008994694,0.0005573261,0.00001313339,0.0001067729,0.001002587],"genre_scores_gemma":[0.9955817,0.0006196115,0.0001621946,0.002532688,0.0005464234,0.00001613382,0.0001504503,0.00004703321,0.0003437765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8055982,"threshold_uncertainty_score":0.7686238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009224903255388871,"score_gpt":0.2132543226578377,"score_spread":0.2040294194024488,"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."}}