{"id":"W4390917522","doi":"10.1111/cge.14483","title":"Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia","year":2024,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Brain Institute; University of Toronto; University Health Network","funders":"","keywords":"Missense mutation; Minigene; ACVRL1; Telangiectasia; RNA splicing; Exon; Genetics; Biology; In silico; Endoglin; Medical genetics; Mutation; Medicine; Gene; Alternative splicing; Pathology; RNA","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":[0.0001652384,0.0004585753,0.00028011,0.0009926519,0.0004512773,0.0003112653,0.0002173176,0.0003754864,0.0009513688],"category_scores_gemma":[0.0007385936,0.0001995917,0.0003132435,0.0007878019,0.000310999,0.0001260129,0.0002023634,0.0002125845,0.0001779612],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002077,"about_ca_system_score_gemma":0.000143502,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007400054,"about_ca_topic_score_gemma":0.005810254,"domain_scores_codex":[0.9998102,0.0000234013,0.00003872607,0.00006093337,0.00003745163,0.0000293809],"domain_scores_gemma":[0.9997128,0.00006302836,0.00008603591,0.00001814014,0.00005418006,0.00006574765],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004217074,0.00007025719,0.8801872,0.00006152072,0.0001407984,0.02207997,0.002111145,0.0002274556,0.08412606,0.0001011591,0.0002702184,0.01020254],"study_design_scores_gemma":[0.00002647487,0.0001350979,0.9714706,0.000008101977,0.0001267589,0.02374236,0.000608444,0.0004516011,0.002587893,0.00005072644,0.0007728153,0.00001911203],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999613,0.00008113521,0.00007507259,0.00001299765,0.000002054237,0.000002607505,0.00007025158,0.000002848079,0.0001399817],"genre_scores_gemma":[0.9993333,0.00007983275,0.0001915232,0.0000228036,0.000005076005,0.000003857598,0.0001909538,0.00000453164,0.0001679397],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007400054,"threshold_uncertainty_score":0.014714,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02690820805483007,"score_gpt":0.2947685929583769,"score_spread":0.2678603849035468,"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."}}