{"id":"W2042200672","doi":"10.1007/s00439-005-0081-1","title":"A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions","year":2005,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":126,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Biology; Genetics; Locus (genetics); Human genetics; Gene; Short stature; X chromosome; Endocrinology","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":[0.0003898325,0.001393185,0.0007985131,0.002206204,0.001246525,0.0003325031,0.0005016625,0.000811192,0.003192093],"category_scores_gemma":[0.001508683,0.0005739021,0.0003712115,0.0006689455,0.001058008,0.0003706413,0.0007581338,0.0004941487,0.000633123],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002144843,"about_ca_system_score_gemma":0.000277036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001228173,"about_ca_topic_score_gemma":0.0008512999,"domain_scores_codex":[0.9996608,0.00004604259,0.00004001258,0.00009570447,0.00007005876,0.00008727048],"domain_scores_gemma":[0.9994643,0.0001271974,0.00007891496,0.00004682519,0.000063904,0.0002188823],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001653843,0.0006120033,0.4595977,0.0001518153,0.00009383875,0.4604136,0.002767525,0.000334649,0.04981434,0.0005315516,0.001431429,0.02259781],"study_design_scores_gemma":[0.000060808,0.001090763,0.3908187,0.00001698957,0.00007189767,0.5964007,0.0007863308,0.0001636013,0.005658101,0.000150891,0.004748864,0.00003226902],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956949,0.0006503769,0.0005619059,0.0001370115,0.00002453659,0.00004394709,0.0003189798,0.0000232118,0.00254523],"genre_scores_gemma":[0.9951949,0.000854586,0.000524616,0.0001022664,0.00009109238,0.00004189157,0.0005473404,0.00003085928,0.002612425],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003192093,"threshold_uncertainty_score":0.01067865,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03189275818642825,"score_gpt":0.3200049801044909,"score_spread":0.2881122219180627,"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."}}