{"id":"W1973797892","doi":"10.1136/jmg.2004.022079","title":"No live individual homozygous for a novel <i>endoglin</i> mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia","year":2004,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Genetics; Consanguinity; Mutation; Telangiectasia; Consanguineous Marriage; Endoglin; Biology; Medicine; Dermatology; Gene","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":[0.0003672309,0.0001919028,0.0004840108,0.0001557575,0.00004420214,0.00002305197,0.0001648855,0.0001930298,0.000034872],"category_scores_gemma":[0.000335107,0.0001329837,0.0001736551,0.0001778577,0.0001198798,0.00004048745,0.00002901574,0.0003770237,0.00001256109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001324784,"about_ca_system_score_gemma":0.0009732575,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006797382,"about_ca_topic_score_gemma":0.0001055434,"domain_scores_codex":[0.9977439,0.00002426621,0.0005648826,0.0001721536,0.001195784,0.0002989963],"domain_scores_gemma":[0.9987777,0.0001224283,0.0002360902,0.0001493504,0.0003584349,0.0003559281],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.02216011,0.03534865,0.0596531,0.003961844,0.01873024,0.549778,0.02530756,0.02503017,0.003315204,0.0006239808,0.01306912,0.2430219],"study_design_scores_gemma":[0.2974278,0.06599837,0.1497133,0.008654406,0.008358735,0.4320863,0.008683226,0.007732334,0.001710078,0.002628129,0.01513995,0.001867351],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9851744,0.006660128,0.005993898,0.001057683,0.000371942,0.0005037456,0.00002955407,0.00001115643,0.0001974832],"genre_scores_gemma":[0.9693863,0.0003428446,0.02815288,0.001210137,0.0007648643,0.00001552788,0.00003993177,0.00003751072,0.00004998567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2752677,"threshold_uncertainty_score":0.5422917,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02420897450869102,"score_gpt":0.282352891090743,"score_spread":0.2581439165820519,"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."}}