{"id":"W2049681648","doi":"10.1203/00006450-200001000-00008","title":"Identification of Hereditary Hemorrhagic Telangiectasia Type 1 in Newborns by Protein Expression and Mutation Analysis of Endoglin","year":2000,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":86,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Endoglin; Haploinsufficiency; Mutation; ACVRL1; Umbilical vein; Mutant; Molecular biology; Gene; Medicine; Telangiectasia; Biology; Phenotype; Pathology; Genetics; CD34","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":[0.0004949045,0.00005968391,0.0002181043,0.0005897833,0.00002692855,0.000006308226,0.00005115941,0.00006003713,0.000204787],"category_scores_gemma":[0.0001149289,0.00004978497,0.00005704022,0.00175891,0.00003620661,0.000057658,0.00001816672,0.0001089554,0.00001052697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003290273,"about_ca_system_score_gemma":0.00005468528,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004694201,"about_ca_topic_score_gemma":0.00001563956,"domain_scores_codex":[0.9988033,0.0001220946,0.0002983065,0.0001901141,0.0004402256,0.0001459585],"domain_scores_gemma":[0.9994717,0.00006833777,0.00005629296,0.0002051176,0.0001428503,0.00005565029],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008882635,0.0013246,0.8426257,0.0006518948,0.0004771985,0.0001533177,0.001186186,0.0001573897,0.1122275,0.00001687252,0.00080697,0.03948404],"study_design_scores_gemma":[0.003054026,0.0007272963,0.9259611,0.00004883576,0.0009915624,0.0000162113,0.0005331213,0.004624377,0.06367755,0.0001432731,0.00009042622,0.0001321974],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964948,0.002659538,0.00001348166,0.00006532609,0.000007571311,0.0004248395,0.00002256309,0.000005562536,0.0003062876],"genre_scores_gemma":[0.9983105,0.0006588459,0.0001846128,0.000001549309,0.00003447475,0.00002607415,0.0001476866,0.000007532186,0.0006286905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08333538,"threshold_uncertainty_score":0.2242274,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02475667844819546,"score_gpt":0.3416518299687077,"score_spread":0.3168951515205123,"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."}}