{"id":"W1974238244","doi":"10.1002/ajmg.a.34094","title":"Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fibroblast Growth Factor Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"School of Medicine, Boston University","keywords":"Germline; Germline mosaicism; Germline mutation; Genetics; Dizygotic twins; Biology; Mutation; Medicine; Gene; Obstetrics","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":[0.000641117,0.0002471142,0.0004466937,0.0001469448,0.00005061766,0.00003300393,0.0009470322,0.000130838,0.0004661267],"category_scores_gemma":[0.0001317918,0.0001823147,0.0001294232,0.0002437595,0.0004866288,0.00000627024,0.0002696458,0.00045102,0.00005053051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002393176,"about_ca_system_score_gemma":0.0004305546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008446651,"about_ca_topic_score_gemma":0.00003414291,"domain_scores_codex":[0.9969213,0.0001612999,0.000593524,0.0003090884,0.001463853,0.0005509581],"domain_scores_gemma":[0.9979155,0.00002453152,0.0003125913,0.0003776185,0.0002717217,0.001098037],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.01031724,0.002404175,0.3470681,0.0002193408,0.00368505,0.03185742,0.003367413,0.0005156102,0.4373057,0.0001594579,0.02121392,0.1418866],"study_design_scores_gemma":[0.005406474,0.05336855,0.3966388,0.0009914335,0.0002132272,0.05488878,0.0007342949,0.0002475611,0.4192732,0.0001698003,0.06643645,0.001631458],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909703,0.0002110239,0.007823973,0.0004936006,0.0001958741,0.0001175282,0.0000155151,0.00000631697,0.0001659199],"genre_scores_gemma":[0.9912339,0.0001659982,0.00719046,0.0007637877,0.0004188638,0.000006922541,0.000005699481,0.00005387173,0.0001605242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1402552,"threshold_uncertainty_score":0.7434579,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01594677678759307,"score_gpt":0.2759869573833322,"score_spread":0.2600401805957392,"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."}}