{"id":"W1666676049","doi":"10.1212/wnl.82.10_supplement.p6.018","title":"A Rare Case of Microcephaly-Capillary Malformation Syndrome Diagnosed via Whole Exome Sequencing (P6.018)","year":2014,"lang":"en","type":"article","venue":"Neurology","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Microcephaly; Exome sequencing; Medicine; Exome; Pediatrics; Genetics; Mutation; Biology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001921225,0.0007019349,0.0003723183,0.001164981,0.0006299164,0.0006302482,0.0005194331,0.001262207,0.001233239],"category_scores_gemma":[0.001768468,0.0002500313,0.0002627178,0.0007974686,0.0006172403,0.0004340723,0.0007363282,0.0007909381,0.000271114],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003558757,"about_ca_system_score_gemma":0.000354518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001363753,"about_ca_topic_score_gemma":0.001806236,"domain_scores_codex":[0.999647,0.00003443792,0.00003363295,0.0001121868,0.0000802193,0.00009260046],"domain_scores_gemma":[0.9992448,0.0002571634,0.0001931775,0.00004352182,0.00005830488,0.0002030245],"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":[0.00004267189,0.00001481873,0.02287529,0.00002158954,0.000008192284,0.9679804,0.0001229021,0.0001151707,0.00557054,0.0002352855,0.0002781,0.002735128],"study_design_scores_gemma":[0.000007687804,0.00004350664,0.01432966,0.000009440355,0.000009574928,0.9825584,0.00005719395,0.0004794286,0.001915865,0.0001422999,0.0004404465,0.000006614559],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991809,0.0006430403,0.00283058,0.0004448309,0.00003902543,0.0000750387,0.0003160163,0.0001216328,0.003720771],"genre_scores_gemma":[0.9972901,0.0001891649,0.001686996,0.0001355485,0.00005953727,0.00001624811,0.0001381585,0.00001294574,0.0004713203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001363753,"threshold_uncertainty_score":0.004125655,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00617096901563949,"score_gpt":0.2088896291615088,"score_spread":0.2027186601458693,"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."}}