{"id":"W4401635590","doi":"10.3233/jnd-240029","title":"Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective","year":2024,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; RYR-1 Foundation","keywords":"Perspective (graphical); Medicine; RYR1; Pediatrics; Internal medicine","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":[0.00005561285,0.0001726509,0.0001765082,0.00007004337,0.0001191109,0.0000667412,0.0001762098,0.00007428468,0.00002818215],"category_scores_gemma":[0.0002338,0.0001128646,0.000262275,0.0001348188,0.0002484421,0.00001907492,0.00009547963,0.0001660585,0.000003014896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001033999,"about_ca_system_score_gemma":0.00009574707,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006228561,"about_ca_topic_score_gemma":9.74196e-7,"domain_scores_codex":[0.9989266,0.0002395014,0.0002161175,0.0002568567,0.0001934659,0.0001674942],"domain_scores_gemma":[0.9993821,0.00006496512,0.0001108079,0.0001930996,0.0001097884,0.000139287],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001719145,0.002884119,0.04219544,0.0006653293,0.007295153,0.0008213752,0.006334079,0.0009937276,0.545791,0.002255568,0.3590515,0.02999356],"study_design_scores_gemma":[0.005018142,0.006728533,0.8217651,0.0004654622,0.003805864,0.0005484904,0.0154167,0.0003613088,0.00789948,0.01036151,0.1260087,0.001620702],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.926572,0.07217715,0.00002393332,0.0005692851,0.0002548508,0.0001387674,0.0001492576,0.00001380365,0.0001009124],"genre_scores_gemma":[0.9967067,0.002681978,0.000004548754,0.0003840579,0.0001072853,0.000007397121,0.00004747053,0.00002202173,0.00003849034],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7795697,"threshold_uncertainty_score":0.4602486,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002441355536159547,"score_gpt":0.2181815674259509,"score_spread":0.2157402118897914,"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."}}