{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002321686,0.0001017659,0.0001796274,0.00008235613,0.00002039819,0.00000158494,0.00005056792,0.0002013255,0.00001369298],"category_scores_gemma":[0.00008376005,0.00009569414,0.00005943634,0.0001367059,0.00006241591,0.000004841945,0.000004322562,0.00004828242,0.000001828795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002660276,"about_ca_system_score_gemma":0.00007677494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001174882,"about_ca_topic_score_gemma":0.00004329931,"domain_scores_codex":[0.9991778,0.0001113805,0.000291211,0.0002083686,0.00006408265,0.0001471601],"domain_scores_gemma":[0.9996108,0.00001487519,0.0001335336,0.0001263463,0.00008765435,0.00002683338],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002543334,0.00005940038,0.001110302,0.00001672023,0.00001133359,0.000001027345,0.0001424021,0.0003665878,0.996699,0.00007126646,0.00004416002,0.001223414],"study_design_scores_gemma":[0.0009577142,0.0006580388,0.003302368,0.00001494332,0.000008372071,0.00004638013,0.0003114045,0.0003652043,0.9904596,0.0000297837,0.003743944,0.0001022153],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950197,0.0005160056,0.004061806,0.0000156452,0.0001375191,0.0001381513,0.000003970484,0.000005975048,0.0001012359],"genre_scores_gemma":[0.9992076,0.00009884011,0.0003413055,0.0001055431,0.00002773852,0.000015386,0.00006522797,0.00001323443,0.0001251462],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006239421,"threshold_uncertainty_score":0.3902294,"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."}}