{"id":"W4311166444","doi":"10.1136/bcr-2022-248995","title":"Diagnosis and clinical presentation of two individuals with a rare <i>TCF20</i> pathogenic variant","year":2022,"lang":"en","type":"article","venue":"BMJ Case Reports","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; McMaster University","funders":"","keywords":"Presentation (obstetrics); Medicine; Radiology","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":[0.0003644488,0.001510791,0.0006814685,0.001668916,0.00119197,0.0009369998,0.0008741753,0.003365931,0.002045107],"category_scores_gemma":[0.003019811,0.0007253928,0.0005618393,0.0007276859,0.001578544,0.0008458803,0.001596611,0.001867658,0.0005686423],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008351977,"about_ca_system_score_gemma":0.0004040554,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002644754,"about_ca_topic_score_gemma":0.002392586,"domain_scores_codex":[0.9993357,0.0000672103,0.00006264617,0.0002080577,0.0001202411,0.0002061507],"domain_scores_gemma":[0.9989322,0.0002918304,0.0002090749,0.00005163871,0.00006682704,0.0004484256],"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":[0.00004124097,0.00004224571,0.01272947,0.00001668642,0.000006786933,0.9821413,0.0004412509,0.00006607657,0.002225618,0.0003038621,0.0004061878,0.001579287],"study_design_scores_gemma":[0.0000112009,0.00008723842,0.01187038,0.00001316941,0.000007865884,0.9866432,0.0001408906,0.0001321633,0.0004935062,0.00013311,0.0004558173,0.00001162631],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883407,0.0007440764,0.001694121,0.001382933,0.0001382535,0.0001734086,0.0002093642,0.0000785796,0.007238633],"genre_scores_gemma":[0.9967737,0.000266153,0.001254245,0.0004351673,0.0001737669,0.00003487531,0.00009674548,0.00001860694,0.0009467767],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003365931,"threshold_uncertainty_score":0.00684154,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03172383158479992,"score_gpt":0.3743684055300832,"score_spread":0.3426445739452833,"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."}}