{"id":"W2149294141","doi":"10.1007/s10048-006-0076-7","title":"Large germline deletions and duplication in isolated cerebral cavernous malformation patients","year":2007,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Vascular Malformations Diagnosis and Treatment","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Hôpital Notre-Dame","funders":"","keywords":"Gene duplication; Multiplex ligation-dependent probe amplification; Point mutation; Biology; Human genetics; Genetics; Gene; Germline mutation; Headaches; Germline; Mutation; Pathology; Medicine; Surgery; Exon","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":[0.0001961479,0.0006357163,0.0004593433,0.001908532,0.0008423983,0.0004613419,0.0006148044,0.0008285989,0.004080263],"category_scores_gemma":[0.002723067,0.0002923604,0.0002620349,0.0009695062,0.0007401814,0.0003146089,0.0004310505,0.0004156786,0.0002954784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004415519,"about_ca_system_score_gemma":0.0005044251,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00270071,"about_ca_topic_score_gemma":0.003026077,"domain_scores_codex":[0.9996069,0.00004412463,0.00004225426,0.0001128186,0.00009133764,0.0001025473],"domain_scores_gemma":[0.9989733,0.0005110678,0.0002043465,0.00004950003,0.00006726196,0.0001945156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00129129,0.0001972424,0.4571518,0.00006722478,0.0001214992,0.4842811,0.001430617,0.0007437243,0.0350516,0.0005585403,0.0007479443,0.01835742],"study_design_scores_gemma":[0.00009369773,0.000364969,0.3345623,0.00001780946,0.0001301948,0.6566402,0.0006527537,0.0008073414,0.005429639,0.0004291139,0.0008319883,0.00003996878],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986689,0.000126868,0.0001153304,0.00005240063,0.000005868135,0.000007007283,0.00009561917,0.00001104985,0.0009170414],"genre_scores_gemma":[0.9995869,0.00004603155,0.0001179019,0.00002026927,0.00001453799,0.000003756092,0.00005735607,0.000005333694,0.0001478567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004080263,"threshold_uncertainty_score":0.01364982,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007678687074149387,"score_gpt":0.2477650922094466,"score_spread":0.2400864051352972,"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."}}