{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001483177,0.001628056,0.0003319669,0.0008229449,0.0006179488,0.0002511559,0.0004963032,0.0006573398,0.0022301],"category_scores_gemma":[0.0005429244,0.0003046139,0.0002667372,0.000624489,0.000537554,0.0001901425,0.0007773286,0.0005961302,0.0005783166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003307614,"about_ca_system_score_gemma":0.0002773503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002658341,"about_ca_topic_score_gemma":0.003392262,"domain_scores_codex":[0.9996852,0.00002977419,0.00003424189,0.00008984607,0.0001018152,0.00005930183],"domain_scores_gemma":[0.9997219,0.00004269407,0.0000956096,0.00001614707,0.00002017806,0.0001035094],"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":[0.001257415,0.0002421386,0.1159178,0.0002482907,0.0004447255,0.2353185,0.0007800395,0.0004390004,0.6229879,0.0006999408,0.001383802,0.02028067],"study_design_scores_gemma":[0.00007367644,0.0005474675,0.4349481,0.00004159406,0.0002319072,0.5261102,0.000278877,0.001165698,0.0332381,0.0002787928,0.00303775,0.00004775012],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973046,0.0005267048,0.0008505271,0.00008311908,0.00001448935,0.00002173659,0.0002581197,0.00005469328,0.0008860465],"genre_scores_gemma":[0.9981217,0.0002209628,0.0005501198,0.00005004923,0.00001537975,0.000009372401,0.0002507277,0.00002068472,0.0007610879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002658341,"threshold_uncertainty_score":0.007460475,"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."}}