{"id":"W4394615344","doi":"10.3389/fendo.2024.1312357","title":"Undiagnosed RASopathies in infertile men","year":2024,"lang":"en","type":"article","venue":"Frontiers in Endocrinology","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Tartu Ülikool","keywords":"Medicine; PTEN; Infertility; Cohort; Male infertility; PTPN11; Population; Genetic testing; Internal medicine; Gynecology; Cancer; Genetics; Biology; KRAS; PI3K/AKT/mTOR pathway","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":[0.00009089956,0.0001509202,0.0001906921,0.0002484751,0.00001803452,0.00002041916,0.0002232978,0.0001223873,0.00002400412],"category_scores_gemma":[0.0001309843,0.0001561361,0.00004665186,0.0002100649,0.0001313321,0.000007565905,0.0001564152,0.0001846372,0.00002328555],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005042122,"about_ca_system_score_gemma":0.00008218338,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001162031,"about_ca_topic_score_gemma":0.0001267353,"domain_scores_codex":[0.998789,0.00008179668,0.0002243849,0.0004069903,0.0000641092,0.0004337105],"domain_scores_gemma":[0.9996362,0.00002009628,0.00002146465,0.0002737948,0.00001207337,0.00003635081],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005671052,0.0003351882,0.5401584,0.0002663065,0.000207581,0.002424703,0.0003557635,0.0005458925,0.05656303,0.02722228,0.2742072,0.09714659],"study_design_scores_gemma":[0.001874221,0.0004616652,0.04564027,0.0001176243,0.00001929942,0.0001118396,0.000358203,0.0006143539,0.5858579,0.0106892,0.3536444,0.0006110185],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6375322,0.3398063,0.008450992,0.001576293,0.004034706,0.0009945551,0.0001251464,0.0001717124,0.007308094],"genre_scores_gemma":[0.9945427,0.002234004,0.002265184,0.0001610591,0.0001156621,0.0001668708,0.0001119366,0.00002595677,0.0003766069],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5292948,"threshold_uncertainty_score":0.6367043,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005462889773996183,"score_gpt":0.2416922281230212,"score_spread":0.236229338349025,"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."}}