{"id":"W3080769866","doi":"10.3390/jcm9092714","title":"Genotype–Phenotype Correlations in Children with HHT","year":2020,"lang":"en","type":"article","venue":"Journal of Clinical Medicine","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; North York General Hospital; University of Toronto; St. Michael's Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Rare Diseases Clinical Research Network","keywords":"Medicine; Telangiectasia; ACVRL1; Mucocutaneous zone; Genotype; Phenotype; Genotype-phenotype distinction; Vascular malformation; Arteriovenous malformation; Pathology; Mutation; Endoglin; Gastroenterology; Internal medicine; Disease; Gene; Genetics; Surgery; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004468103,0.0001046193,0.0007188985,0.00006932707,0.000020189,0.000002925296,0.00007693999,0.00008226754,0.0003163733],"category_scores_gemma":[0.001058488,0.00005726593,0.000151091,0.0002447045,0.0001128205,0.0000529153,0.00001495234,0.0005126824,0.00003136639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001849097,"about_ca_system_score_gemma":0.0001543696,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001996517,"about_ca_topic_score_gemma":0.000006675788,"domain_scores_codex":[0.9983303,0.00006527786,0.0009781396,0.0001272479,0.0003728353,0.0001261782],"domain_scores_gemma":[0.9988105,0.0001664323,0.0003622579,0.0001289025,0.0001547434,0.0003771601],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008758603,0.0002380213,0.9857158,0.00001046634,0.0004895257,0.0002281293,0.0001639121,0.00003066853,0.00001038837,0.00007053769,0.001185779,0.0109809],"study_design_scores_gemma":[0.01194748,0.005706327,0.9778557,0.0002231456,0.0005941369,0.0003639306,0.00007248433,0.0001061961,0.000005011632,0.0000565608,0.003014591,0.00005446047],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9708567,0.001262328,0.0006495406,0.02379441,0.000198541,0.000216085,0.000001322961,0.000009569756,0.003011458],"genre_scores_gemma":[0.9935547,0.0002878718,0.001380948,0.003279631,0.001386569,6.839965e-7,0.000008488139,0.00001479477,0.00008638493],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02269789,"threshold_uncertainty_score":0.3464066,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0595565367562271,"score_gpt":0.3777992146597441,"score_spread":0.318242677903517,"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."}}