{"id":"W4414824144","doi":"10.1016/j.nmd.2025.105763","title":"440PNeuromuscular phenotype of three patients with biallelic variants in the RFC4 gene","year":2025,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Hypotonia; Failure to thrive; Phenotype; Myopathy; Muscle biopsy; Congenital myopathy; Muscle weakness; Hearing loss; Muscle Hypotonia","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":[0.0003307472,0.003036012,0.0006304573,0.00147724,0.001710029,0.0008076456,0.0008656931,0.00230184,0.004583348],"category_scores_gemma":[0.001965486,0.0005650863,0.0005593488,0.0008566517,0.00125918,0.0004890127,0.001051751,0.0008516123,0.0006836421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004658456,"about_ca_system_score_gemma":0.0005114665,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003325189,"about_ca_topic_score_gemma":0.002242647,"domain_scores_codex":[0.9994757,0.00005653044,0.00006174095,0.0001647093,0.0001050472,0.0001363204],"domain_scores_gemma":[0.9992172,0.0002929393,0.0001439372,0.00004641356,0.00006692476,0.0002326493],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000464109,0.0002040086,0.05566467,0.00006776684,0.00008936943,0.8936093,0.001344043,0.0002584519,0.04148808,0.0008164351,0.0004607512,0.005533068],"study_design_scores_gemma":[0.00009060883,0.0002935068,0.08378979,0.00002584988,0.0001282247,0.9087643,0.0005785511,0.0006650287,0.004159604,0.000408393,0.001044891,0.00005122129],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954486,0.0002284058,0.0007987345,0.0002465947,0.00003609816,0.00003088771,0.0001371452,0.0000446208,0.003028874],"genre_scores_gemma":[0.9983742,0.00006306871,0.0004604394,0.0001327364,0.00004735888,0.00001269853,0.00007094097,0.00002179744,0.0008167163],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004583348,"threshold_uncertainty_score":0.01533288,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003499914899507441,"score_gpt":0.1918674007725562,"score_spread":0.1883674858730488,"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."}}