{"id":"W1525737988","doi":"10.1111/j.1747-0803.2011.00602.x","title":"Situs Inversus Totalis and a Novel<i>ZIC3</i>Mutation in a Family with X-linked Heterotaxy","year":2011,"lang":"en","type":"article","venue":"Congenital Heart Disease","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"British Columbia Children's Hospital; London Health Sciences Centre; Western University","funders":"","keywords":"Heterotaxy; Situs inversus; Dextrocardia; Medicine; Missense mutation; Penetrance; Polydactyly; Mutation; Genetic counseling; Genetics; Polysplenia; Phenotype; Internal medicine; Gene; Biology; Heart disease; Anatomy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001078176,0.0002128147,0.000170481,0.000116617,0.00007962353,0.00004291955,0.0001070933,0.0000955975,0.00002471135],"category_scores_gemma":[0.00008663753,0.0002024279,0.000064098,0.0001900774,0.0002158015,0.00002271488,0.0001542822,0.0001299836,0.00003245191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002499653,"about_ca_system_score_gemma":0.0001824764,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002274203,"about_ca_topic_score_gemma":0.0003625351,"domain_scores_codex":[0.9986209,0.00006733374,0.0001918134,0.0005045853,0.0002146506,0.0004007518],"domain_scores_gemma":[0.9990502,0.00002071527,0.00002728789,0.0003516547,0.0001124094,0.0004377463],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.01421125,0.00152944,0.2871255,0.0003834601,0.0002812775,0.001321216,0.001200173,0.00001311207,0.683421,0.0002108739,0.0006797799,0.009622891],"study_design_scores_gemma":[0.007511131,0.002759538,0.965754,0.00008046459,0.000115917,0.0002207583,0.0004406974,0.0007998764,0.0185662,0.0003104147,0.002329895,0.001111064],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966912,0.001185242,0.0001132771,0.00005664423,0.00005277504,0.0006103604,0.00008361748,0.00002330978,0.001183524],"genre_scores_gemma":[0.9986782,0.00001612948,0.0003496469,0.0003450207,0.00005740878,0.0001244297,0.00008354575,0.00003673093,0.000308879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6786286,"threshold_uncertainty_score":0.8254769,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03021466834632446,"score_gpt":0.2624739881757991,"score_spread":0.2322593198294746,"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."}}