{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005908586,0.00009631012,0.0002007928,0.00003191407,0.00009451499,0.0000086482,0.0004554504,0.0001212897,0.000109765],"category_scores_gemma":[0.0002249509,0.00006771103,0.0002107621,0.00007888547,0.000265511,0.000001142792,0.0005017811,0.0003203222,4.956705e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006738481,"about_ca_system_score_gemma":0.000494102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002647908,"about_ca_topic_score_gemma":0.000003319781,"domain_scores_codex":[0.9981676,0.0002253114,0.0006719541,0.0001431839,0.0006488514,0.0001430382],"domain_scores_gemma":[0.9991119,0.00003148855,0.000347406,0.0002194463,0.00007487102,0.0002148868],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001516026,0.002207443,0.5793954,0.0001511918,0.001765177,0.001294893,0.0008240466,0.003521891,0.2623573,0.0003747185,0.02915268,0.1174392],"study_design_scores_gemma":[0.01158769,0.008351262,0.7605445,0.0001163494,0.0008950359,0.01050329,0.001724649,0.002459479,0.04269863,0.002750144,0.1574751,0.0008938113],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881724,0.009712671,0.00009593705,0.0009711904,0.0009018935,0.00008037547,0.00001860163,0.000001124071,0.0000458069],"genre_scores_gemma":[0.9955411,0.00344777,0.0002056813,0.0004229848,0.0003042077,0.000001318757,0.000003871531,0.00001448556,0.00005856265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2196587,"threshold_uncertainty_score":0.2761176,"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."}}