{"id":"W2081447030","doi":"10.1097/00000542-200308000-00011","title":"Detection of a Novel Ryanodine Receptor Subtype 1 Mutation (R328W) in a Malignant Hyperthermia Family by Sequencing of a Leukocyte Transcript","year":2003,"lang":"en","type":"article","venue":"Anesthesiology","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Manitoba","funders":"Medical Research Council","keywords":"RYR1; Malignant hyperthermia; Mutation; Ryanodine receptor; Genetics; Mutant; Molecular biology; Biology; DNA; Gene; Polymerase chain reaction; Primer (cosmetics); DNA sequencing; Insertion; Medicine; Chemistry; Receptor; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001207048,0.0005831158,0.0002515513,0.000888448,0.0006513256,0.0002085647,0.0003279218,0.0006023176,0.001466431],"category_scores_gemma":[0.0005768772,0.0001453076,0.0003338012,0.0003939718,0.000365686,0.00007167207,0.0002181095,0.0004218467,0.0002890164],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006433575,"about_ca_system_score_gemma":0.0006576358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01984636,"about_ca_topic_score_gemma":0.03351349,"domain_scores_codex":[0.9997761,0.00001228268,0.00001232605,0.00007367696,0.00008364585,0.00004201022],"domain_scores_gemma":[0.9997512,0.00007092332,0.00005231319,0.00001351886,0.00003948712,0.00007262247],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0002910005,0.00006085205,0.03778054,0.00008987263,0.00003964298,0.0476945,0.001583069,0.0003257618,0.9011811,0.0001963062,0.0003043657,0.010453],"study_design_scores_gemma":[0.00008205815,0.001091366,0.4710101,0.00009692318,0.0003106782,0.2090851,0.001035359,0.003602877,0.3021055,0.0002630099,0.01121653,0.0001002634],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956877,0.0001463186,0.002869568,0.00009883621,0.00001307523,0.00004663983,0.0004109595,0.00005064619,0.0006763327],"genre_scores_gemma":[0.9948585,0.0001855953,0.003601639,0.00009969421,0.00001356108,0.00002896506,0.0003965533,0.00002714269,0.0007882882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01984636,"threshold_uncertainty_score":0.03946167,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01997691362694355,"score_gpt":0.2239512807904764,"score_spread":0.2039743671635328,"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."}}