{"id":"W4376131679","doi":"10.1093/brain/awad152","title":"Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Canada Research Chairs; Deutsche Forschungsgemeinschaft; Rheinische Friedrich-Wilhelms-Universität Bonn; Bundesministerium für Bildung und Forschung; Horizon 2020 Framework Programme; Universitätsklinikum Essen; Muscular Dystrophy Canada; Muscular Dystrophy Association; Canada Foundation for Innovation; Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen; French Muscular Dystrophy Association; European Regional Development Fund; European Commission","keywords":"Filamin; FLNA; Missense mutation; Biology; Phenotype; Genetics; Muscle biopsy; Proteostasis; Myopathy; Pathology; Medicine; Gene; Biopsy; Cytoskeleton","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00013807,0.00008936264,0.0001026718,0.00003806803,0.00003272203,0.000006478159,0.0000685143,0.0001277843,0.00002972865],"category_scores_gemma":[0.00006826157,0.00008336251,0.00005255433,0.00008774865,0.00007143411,0.00000198523,0.00004739483,0.00005351461,0.00001221962],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001123857,"about_ca_system_score_gemma":0.00001807138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001093443,"about_ca_topic_score_gemma":0.00003399997,"domain_scores_codex":[0.9993836,0.00004104383,0.0001236611,0.0002265448,0.00007398618,0.0001511624],"domain_scores_gemma":[0.999718,0.00001931039,0.00003188522,0.00015304,0.00002120107,0.00005656064],"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":[0.00006148712,0.00002562145,0.01290351,0.00001467631,0.00002357228,0.0000629568,0.0000678251,0.000006733284,0.9856426,0.0001128887,0.0004445948,0.0006335725],"study_design_scores_gemma":[0.001860232,0.001159932,0.8887228,0.00001207253,0.00006333915,0.00008679596,0.00005870454,0.0009427973,0.05187578,0.0003902834,0.05441829,0.0004090002],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987584,0.0002526606,0.0003634489,0.0002158474,0.00008616791,0.000103931,0.00002857158,0.00002006897,0.0001708658],"genre_scores_gemma":[0.9981967,0.0001271774,0.00003468486,0.0002057983,0.00007004147,0.00000640911,0.0008795032,0.00001169897,0.0004679725],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9337668,"threshold_uncertainty_score":0.3399425,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01406941436377802,"score_gpt":0.2256584292366584,"score_spread":0.2115890148728804,"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."}}