{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004283944,0.0006132235,0.0007516286,0.0007968165,0.0003278577,0.0009043946,0.0007679851,0.001498184,0.00386571],"category_scores_gemma":[0.0007304,0.0002003131,0.0004143066,0.0006589156,0.001371479,0.0013375,0.0006861557,0.001721676,0.001148484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006509232,"about_ca_system_score_gemma":0.0005026962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004727258,"about_ca_topic_score_gemma":0.000591716,"domain_scores_codex":[0.9998091,0.00004198517,0.00001982256,0.00003986686,0.00005933826,0.00002993982],"domain_scores_gemma":[0.9995956,0.0001544646,0.00004714078,0.00003133098,0.00006200499,0.000109469],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002381875,0.0003192212,0.01207585,0.002093689,0.0002347058,0.01975189,0.0008147557,0.002155409,0.1939032,0.1599368,0.1067941,0.4995385],"study_design_scores_gemma":[0.0002474315,0.000265132,0.01441965,0.0003267277,0.0002167087,0.01890481,0.0003327727,0.001246239,0.01903895,0.0537926,0.8911462,0.00006286988],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.134934,0.6699952,0.03379964,0.08352984,0.02386275,0.000107446,0.001729208,0.0009627014,0.0510792],"genre_scores_gemma":[0.3952504,0.4670934,0.03953757,0.02098634,0.01802913,0.0002125704,0.001754879,0.0003025808,0.05683313],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00386571,"threshold_uncertainty_score":0.01293212,"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."}}