{"id":"W4387302334","doi":"10.1016/j.nmd.2023.07.258","title":"O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects","year":2023,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Filamin; FLNA; Missense mutation; Biology; Phenotype; Genetics; Proteostasis; Gene; Cytoskeleton","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":[0.0001406088,0.00131751,0.0002894055,0.000760713,0.000548116,0.0003692904,0.0005966321,0.001049505,0.005242986],"category_scores_gemma":[0.0006502214,0.0001998518,0.0004021818,0.0008456978,0.0005486886,0.0002319227,0.0008501366,0.0005374395,0.001465354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002441672,"about_ca_system_score_gemma":0.0002880234,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00422179,"about_ca_topic_score_gemma":0.00491021,"domain_scores_codex":[0.9996972,0.00002866902,0.00004304616,0.00007831409,0.0000792788,0.00007353694],"domain_scores_gemma":[0.9995757,0.00007470271,0.0001689164,0.00002277109,0.0000375842,0.0001203228],"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":[0.00275433,0.0003601584,0.1928468,0.0001531976,0.0004488247,0.1805227,0.0007824282,0.0005472994,0.5907304,0.002229359,0.004322865,0.02430163],"study_design_scores_gemma":[0.0002442189,0.0005843274,0.6061261,0.0001338799,0.0005234796,0.3188741,0.001214767,0.00275555,0.05421956,0.001526227,0.01369258,0.0001052455],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914045,0.0004427671,0.001182045,0.0003071018,0.00009939765,0.00002490521,0.0008936452,0.0000657429,0.00557986],"genre_scores_gemma":[0.9970395,0.0001087119,0.0007082262,0.00010773,0.00003654383,0.000007353091,0.0004138701,0.00005416034,0.00152385],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005242986,"threshold_uncertainty_score":0.0175395,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02571045299119547,"score_gpt":0.2482923077045188,"score_spread":0.2225818547133233,"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."}}