{"id":"W1989818346","doi":"10.1186/s12881-015-0175-0","title":"A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature","year":2015,"lang":"en","type":"review","venue":"BMC Medical Genetics","topic":"Lymphatic Disorders and Treatments","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Manitoba Health; McGill University and Génome Québec Innovation Centre; CancerCare Manitoba; McGill Genome Centre; Shared Health; University of Manitoba","funders":"University of Toronto; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; University of Manitoba; McGill University; Ontario Genomics Institute; University of Ottawa","keywords":"Lymphedema; Exome sequencing; Disease gene identification; Lymphangiectasia; Exome; Genetics; Medicine; Biology; Pathology; Mutation; Lymphatic system; Cancer","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000353655,0.001435071,0.001599048,0.004739755,0.0009581174,0.001292614,0.001672096,0.002428147,0.002340031],"category_scores_gemma":[0.0012358,0.0004641796,0.0006935186,0.003659504,0.001261951,0.001759147,0.0008769367,0.001294401,0.001145794],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006389481,"about_ca_system_score_gemma":0.0006380308,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000998821,"about_ca_topic_score_gemma":0.001328315,"domain_scores_codex":[0.999426,0.00005996998,0.0001693165,0.0001545781,0.00009570618,0.00009449459],"domain_scores_gemma":[0.9991548,0.0002959463,0.0002655465,0.00003971877,0.0001044097,0.0001395725],"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":[0.00005934748,0.0001188219,0.007532327,0.003314374,0.000140453,0.9276496,0.0003950106,0.0002947082,0.002949134,0.0004568461,0.009510573,0.0475788],"study_design_scores_gemma":[0.000009743813,0.00004912502,0.005102057,0.0005191151,0.0001333469,0.977998,0.0003017966,0.0001578721,0.0003675796,0.0003170929,0.01501285,0.00003139959],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1607247,0.8087294,0.006490122,0.005338186,0.003309842,0.0003283942,0.0005252582,0.0003704291,0.01418367],"genre_scores_gemma":[0.4794686,0.4971793,0.005142739,0.004335941,0.009086983,0.0001355637,0.0006304126,0.0000669013,0.003953571],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004739755,"threshold_uncertainty_score":0.007828116,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07147327520956798,"score_gpt":0.3850359182495253,"score_spread":0.3135626430399573,"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."}}