{"id":"W4291708116","doi":"10.1002/ccr3.6202","title":"Dual <scp>BRCA1</scp> and <scp>BRCA2</scp> pathogenic variants in an adolescent with syndromic intellectual disability","year":2022,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mining Association of Canada; London Health Sciences Centre; Western University","funders":"","keywords":"Medicine; Intellectual disability; Genetics; Psychiatry; Biology","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":[0.0002045276,0.0006029328,0.0004297098,0.001152079,0.0008703384,0.0006503419,0.0004016129,0.001110425,0.001481715],"category_scores_gemma":[0.001355863,0.0002620894,0.0002991431,0.0004882397,0.0007074559,0.0004385261,0.0007241067,0.0009921385,0.0002708376],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004722099,"about_ca_system_score_gemma":0.0004477514,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001979991,"about_ca_topic_score_gemma":0.002943656,"domain_scores_codex":[0.9997836,0.00002514271,0.00002320959,0.00006086919,0.00004831235,0.00005891352],"domain_scores_gemma":[0.9993827,0.0001996985,0.0001531178,0.00002363955,0.00005309574,0.0001876466],"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":[0.00003651443,0.00004995064,0.0527406,0.00003138296,0.00001030078,0.9392635,0.0004525721,0.0001315522,0.002748374,0.0003700947,0.0005649673,0.003600339],"study_design_scores_gemma":[0.000004856692,0.00005450258,0.01868051,0.00002679713,0.00001439509,0.9784222,0.0002552389,0.0003527905,0.00114744,0.0001865067,0.0008475786,0.000007308441],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941869,0.0007070237,0.001313012,0.0009170654,0.00005719063,0.00003553845,0.0001921546,0.00005134931,0.00253969],"genre_scores_gemma":[0.9979246,0.000387067,0.0009188284,0.0001784379,0.00005866909,0.000007279379,0.00005991999,0.00001312722,0.0004521385],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001979991,"threshold_uncertainty_score":0.004956841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03196396644569983,"score_gpt":0.3210669475832265,"score_spread":0.2891029811375267,"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."}}