{"id":"W4402816021","doi":"10.1093/braincomms/fcae330","title":"<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6","year":2024,"lang":"en","type":"article","venue":"Brain Communications","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council Canada; Medical Research Council; National Institute for Health and Care Research","keywords":"Phenotype; Biology; Physical medicine and rehabilitation; Medicine; Genetics; Psychology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002455869,0.0008829386,0.0005362094,0.001168886,0.001024561,0.0006433171,0.0007811774,0.0008479386,0.004140577],"category_scores_gemma":[0.001044339,0.0003212377,0.0004005906,0.0008115454,0.0006760146,0.0003185263,0.0008891984,0.0008158098,0.0009214586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000295248,"about_ca_system_score_gemma":0.0002145371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00207433,"about_ca_topic_score_gemma":0.002247085,"domain_scores_codex":[0.9995838,0.00003882674,0.00004430214,0.0001500236,0.0000820471,0.0001009539],"domain_scores_gemma":[0.9994504,0.0001432259,0.0001143173,0.0000409928,0.00004614806,0.0002049735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003644494,0.0002072214,0.1598127,0.00008205662,0.00009688117,0.797462,0.000553335,0.0002898965,0.02596157,0.0006103748,0.003693228,0.01086633],"study_design_scores_gemma":[0.00003897518,0.0003041632,0.1597594,0.00001874991,0.00004980401,0.832973,0.0001450035,0.0005066085,0.003312052,0.0003189229,0.002548292,0.00002499526],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925212,0.000696919,0.001144809,0.0007012244,0.00007402187,0.00007132898,0.0009638168,0.00007663145,0.003749958],"genre_scores_gemma":[0.996417,0.0002714728,0.00109826,0.000360004,0.0001340218,0.00001352279,0.0006691145,0.0000414376,0.0009951481],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004140577,"threshold_uncertainty_score":0.01385164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03156627360536384,"score_gpt":0.3339764554287254,"score_spread":0.3024101818233616,"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."}}