{"id":"W4225880055","doi":"10.1136/jmedgenet-2021-108341","title":"<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Muscular Dystrophy UK; National Health and Medical Research Council; National Institutes of Health; National Eye Institute; Genzyme; Kurt+Peter Foundation; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Limb Girdle Muscular Dystrophy 2i Research Fund; Ultragenyx Pharmaceutical","keywords":"Myopathy; Congenital myopathy; Muscle biopsy; Hypotonia; Phenotype; Exome sequencing; Medicine; Muscle weakness; Pathology; Biology; Biopsy; Genetics; Internal medicine; Gene","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":[0.0004441068,0.001202648,0.0005826487,0.001213999,0.0004996955,0.0003346402,0.0004557973,0.0006107372,0.003415745],"category_scores_gemma":[0.001339352,0.0002190451,0.0002653525,0.0006362188,0.0008152525,0.0003443453,0.0008688345,0.0005181671,0.0003723884],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002674815,"about_ca_system_score_gemma":0.0002549916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001089782,"about_ca_topic_score_gemma":0.001072468,"domain_scores_codex":[0.9994186,0.00009791219,0.00007868712,0.0002077305,0.0001034129,0.00009366791],"domain_scores_gemma":[0.9993045,0.0002299096,0.0001934994,0.00004307339,0.00007604743,0.000152999],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009929471,0.0002910489,0.5243372,0.0002616702,0.0001828618,0.2744132,0.0013465,0.001218223,0.1379082,0.001718347,0.0028862,0.05444369],"study_design_scores_gemma":[0.00006223106,0.0004560559,0.458626,0.00007240166,0.00009415269,0.5328803,0.0003813904,0.0008373806,0.004027342,0.0006040492,0.001929477,0.00002919366],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957033,0.0005701384,0.0008487583,0.0002363265,0.00001074558,0.00002390636,0.0001925205,0.00004835479,0.002365846],"genre_scores_gemma":[0.9984841,0.0002474361,0.0006868824,0.0001028598,0.00004453579,0.000009303445,0.0001620421,0.00001962286,0.0002433081],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003415745,"threshold_uncertainty_score":0.01142675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009865934156944206,"score_gpt":0.2685079789656694,"score_spread":0.2586420448087252,"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."}}