{"id":"W3200902909","doi":"10.1002/ajmg.a.62510","title":"Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with <scp><i>KRIT1</i></scp>‐related disease","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations Diagnosis and Treatment","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"","keywords":"Proband; Lymphatic system; Cavernous malformations; Pathology; Chylous ascites; Medicine; Lymphatic Endothelium; Disease; Biology; Mutation; Genetics; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001924373,0.001222244,0.00062575,0.001507571,0.00155544,0.0006135169,0.0006231578,0.001885623,0.002417651],"category_scores_gemma":[0.00126533,0.0004650193,0.0003742747,0.0008908106,0.001183445,0.0004608556,0.0007739415,0.001121712,0.0003161459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006427421,"about_ca_system_score_gemma":0.000579102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004752168,"about_ca_topic_score_gemma":0.00510984,"domain_scores_codex":[0.9997191,0.00002916184,0.00002828892,0.0001010554,0.00005571829,0.00006671152],"domain_scores_gemma":[0.9994934,0.0002060441,0.00009449619,0.00001642041,0.00002439526,0.0001652772],"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":[0.00007423738,0.00006029784,0.0174373,0.00003150332,0.00001271742,0.9736087,0.0005268616,0.0002398797,0.005040318,0.0002935406,0.0003431646,0.002331472],"study_design_scores_gemma":[0.00002269685,0.00008458371,0.02753933,0.00003545578,0.00004325901,0.9676343,0.000212429,0.001010086,0.002278636,0.0003669719,0.0007502086,0.00002206203],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952351,0.0004196426,0.0009195597,0.001016261,0.00003836109,0.0000439589,0.0002229473,0.00007017066,0.002034028],"genre_scores_gemma":[0.9979662,0.0002078708,0.0007609627,0.0001282736,0.00005030129,0.00001399834,0.00006359509,0.00001425433,0.000794537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004752168,"threshold_uncertainty_score":0.009449005,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007062835786182216,"score_gpt":0.2439641475981588,"score_spread":0.2369013118119766,"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."}}