{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003832717,0.0002368716,0.0003362765,0.0007811505,0.0003100392,0.0004375534,0.0001498417,0.0003523954,0.001691686],"category_scores_gemma":[0.003030387,0.0001967126,0.0002136204,0.0007166765,0.0002687248,0.0002930343,0.0002623736,0.0003180738,0.00020611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002274271,"about_ca_system_score_gemma":0.000228907,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001847258,"about_ca_topic_score_gemma":0.001506425,"domain_scores_codex":[0.9994498,0.0001375788,0.00006485637,0.0001340186,0.0001262608,0.00008744632],"domain_scores_gemma":[0.9985136,0.0005449892,0.0005626288,0.00007064118,0.0001247834,0.0001833284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003419491,0.000008245209,0.9983287,0.000003151365,0.00001009231,0.0004912458,0.0000804748,0.00003324147,0.0001984713,0.00001183951,0.00005104062,0.0007492421],"study_design_scores_gemma":[0.000003431882,0.00009687031,0.996405,0.000004332583,0.00001053477,0.002975999,0.0001454827,0.0001154798,0.0000946505,0.00001911738,0.0001259659,0.000003223752],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995862,0.00007464958,0.00004414358,0.00001502115,0.000002055674,0.000002685311,0.00011909,0.00000259806,0.0001535605],"genre_scores_gemma":[0.9995548,0.00005675571,0.00006834837,0.00001502976,0.000004784428,0.000005858483,0.0002461256,0.000002046855,0.00004620816],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001847258,"threshold_uncertainty_score":0.005659282,"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."}}