{"id":"W4387950689","doi":"10.1002/ajmg.a.63451","title":"45,X/46,<scp>XY</scp> mosaicism: Clinical manifestations and long term <scp>follow‐up</scp>","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hospital for Sick Children; Toronto Centre for Phenogenomics; SickKids Foundation; University of Toronto; Centre Hospitalier Universitaire Sainte-Justine; Mount Sinai Hospital","funders":"Rare Disease Foundation","keywords":"Term (time); Genetics; Biology; Physics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0002545961,0.000157255,0.000213073,0.0005572089,0.0004209203,0.0002957202,0.0001193742,0.000176836,0.0007291881],"category_scores_gemma":[0.0008209766,0.0001435727,0.0001681232,0.0003660666,0.0002310982,0.00024847,0.0003253142,0.0002519303,0.0001597374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002206983,"about_ca_system_score_gemma":0.0001937408,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002164216,"about_ca_topic_score_gemma":0.002635464,"domain_scores_codex":[0.9998354,0.000029411,0.00001889903,0.00004557629,0.00004027866,0.0000303361],"domain_scores_gemma":[0.9995021,0.0001324216,0.0001436122,0.00003807243,0.00003817529,0.0001456719],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0001021757,0.00004085391,0.991952,0.000005231076,0.00001442711,0.002360745,0.0001569654,0.00003406292,0.002018816,0.0000131116,0.00007607009,0.003225531],"study_design_scores_gemma":[0.000007295792,0.0002444698,0.988443,0.000004257875,0.00001247378,0.01050588,0.0001730181,0.00008699599,0.0003352261,0.00001552802,0.0001674499,0.000004508743],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996835,0.00009004347,0.00004055498,0.00000877913,6.965901e-7,0.000003202463,0.00005319754,0.000001857074,0.0001181382],"genre_scores_gemma":[0.9996233,0.00006830235,0.00005839809,0.00001050076,0.00000373093,0.000003575356,0.0001563637,0.000001350249,0.0000744302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002164216,"threshold_uncertainty_score":0.004303277,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0300998479334238,"score_gpt":0.345288855583274,"score_spread":0.3151890076498503,"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."}}