{"id":"W2066250513","doi":"10.1086/375614","title":"Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia","year":2003,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Lymphatic System and Diseases","field":"Medicine","cited_by":428,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Biology; Genetics; Missense mutation; Germline mutation; Hypotrichosis; Gene; Cancer research; Mutation","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":[0.0003356533,0.0001065356,0.0003411554,0.000124168,0.00008465462,0.00001731857,0.0001344246,0.00001934125,0.00001673967],"category_scores_gemma":[0.00007945953,0.00005302508,0.0001054034,0.0002452017,0.0002959845,0.00003757959,0.000005924639,0.00002938692,8.090379e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004728275,"about_ca_system_score_gemma":0.0001421367,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001627736,"about_ca_topic_score_gemma":0.000008386251,"domain_scores_codex":[0.998782,0.0002209707,0.000477643,0.00007787903,0.0003014406,0.0001400522],"domain_scores_gemma":[0.9988958,0.0001860719,0.0005444172,0.0001828323,0.000115915,0.00007502268],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001352241,0.001994141,0.3035434,0.0004261194,0.001126186,0.0003148609,0.0645433,0.0003918185,0.5609992,0.002542571,0.0007392659,0.06202691],"study_design_scores_gemma":[0.006104797,0.004843415,0.8827468,0.0003567373,0.001325286,0.002646,0.05813718,0.00007375239,0.0375799,0.00568454,0.0002182365,0.0002834074],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954574,0.003233542,0.0004515788,0.0002410393,0.00004307951,0.0002132811,0.000006652322,0.00000210783,0.0003513437],"genre_scores_gemma":[0.9988243,0.0004943755,0.0003985152,0.0001935304,0.00005376899,0.000004524705,0.000001785364,0.00001151718,0.00001770114],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5792034,"threshold_uncertainty_score":0.21623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02897352887290012,"score_gpt":0.3009538484075227,"score_spread":0.2719803195346226,"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."}}