{"id":"W4403819347","doi":"10.1093/braincomms/fcae377","title":"Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations","year":2024,"lang":"en","type":"article","venue":"Brain Communications","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; National Heart, Lung, and Blood Institute; Medical Research Council; Directorate for Biological Sciences; Medical Research Council Centre for Neurodevelopmental Disorders; Medical Research Council Canada; Sparks; H2020 European Research Council; Ataxia UK; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Brain Research UK; Alzheimer’s Research UK; Broad Institute; Multiple System Atrophy Trust; Rosetrees Trust; Biotechnology and Biological Sciences Research Council; Michael J. Fox Foundation for Parkinson's Research; Ministerstvo Zdravotnictví Ceské Republiky; Muscular Dystrophy UK; National Human Genome Research Institute; NIHR Oxford Biomedical Research Centre; Wellcome Trust","keywords":"Genetics; Phenotype; Biology; Genetic analysis; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001584553,0.000106115,0.0001780202,0.0001948536,0.0001661664,0.00003910248,0.0003575012,0.0001023676,0.00005272183],"category_scores_gemma":[0.0003203941,0.0001094656,0.0001259955,0.0009823759,0.0004426643,0.000006433528,0.0004791039,0.0001645062,0.00000819285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001477767,"about_ca_system_score_gemma":0.0001315411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009135701,"about_ca_topic_score_gemma":0.0004058237,"domain_scores_codex":[0.998755,0.0004163569,0.0002808816,0.0002900006,0.0001105402,0.0001472149],"domain_scores_gemma":[0.9977641,0.0007172658,0.00004388679,0.001219587,0.0001865036,0.0000686311],"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":[0.0001026141,0.001065127,0.06209004,0.0005446997,0.0105722,0.00001377484,0.003649767,0.004466315,0.6947834,0.01690116,0.002088717,0.2037221],"study_design_scores_gemma":[0.001047887,0.0005185209,0.6408646,0.0001060762,0.002314007,0.00005711938,0.0007784273,0.2413267,0.003595706,0.005396856,0.103174,0.0008200804],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9842147,0.009687427,0.001666265,0.002284516,0.00003549728,0.0003314918,0.0001846445,0.00003507584,0.001560434],"genre_scores_gemma":[0.9963561,0.000676069,0.001929762,0.00005580181,0.000009991539,0.00005963934,0.0005768894,0.0000154839,0.0003202839],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6911877,"threshold_uncertainty_score":0.4463877,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01729830669877716,"score_gpt":0.321689066629597,"score_spread":0.3043907599308199,"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."}}