{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003572142,0.001235513,0.0006556198,0.001405324,0.001268292,0.0005415817,0.0004685281,0.001102951,0.003523835],"category_scores_gemma":[0.001981509,0.0005471251,0.0005689987,0.0006321041,0.0008421547,0.0003397606,0.001211802,0.0009255726,0.0006798925],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005236496,"about_ca_system_score_gemma":0.0005460844,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002845409,"about_ca_topic_score_gemma":0.003519246,"domain_scores_codex":[0.9994497,0.00006258822,0.00005361139,0.0001298756,0.0001902618,0.0001139171],"domain_scores_gemma":[0.9993285,0.0001444896,0.0001944148,0.00005061134,0.00004643959,0.0002355931],"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":[0.0002243867,0.00009794261,0.03485952,0.00004844314,0.0001189517,0.9320811,0.0008115779,0.000270544,0.02212435,0.002063039,0.001083753,0.00621633],"study_design_scores_gemma":[0.00004916002,0.0001297038,0.03010827,0.00002601479,0.00006809706,0.9618387,0.0002769034,0.000453154,0.0050935,0.0005133551,0.00141388,0.00002936753],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916715,0.0004372218,0.001045331,0.0006535011,0.0001495922,0.00005270917,0.0002878406,0.00006622317,0.005636128],"genre_scores_gemma":[0.9971688,0.0002515443,0.0007179754,0.0001457987,0.00008213279,0.00001517634,0.00006559367,0.00001812557,0.001534729],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003523835,"threshold_uncertainty_score":0.01178837,"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."}}