{"id":"W3021182817","doi":"10.1111/cge.13769","title":"<scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome","year":2020,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Gynecological conditions and treatments","field":"Medicine","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Okanagan University College; University of British Columbia, Okanagan Campus; University of British Columbia","funders":"Service Public de Wallonie; Fonds De La Recherche Scientifique - FNRS; Université de Liège; Waalse Gewest","keywords":"Penetrance; Renal agenesis; Genetics; Aplasia; Uterus; Biology; Exome sequencing; Genetic heterogeneity; Genitourinary system; Mutation; Medicine; Gene; Phenotype; Kidney; Anatomy","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003006157,0.0003938118,0.0008820158,0.000079446,0.0001092369,0.00005401906,0.0001729171,0.0005221847,0.00004902116],"category_scores_gemma":[0.001842095,0.0003467539,0.0001644274,0.0003427758,0.00043039,0.00009463978,0.0002426013,0.0006719078,0.0001520576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003505575,"about_ca_system_score_gemma":0.000134539,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000895814,"about_ca_topic_score_gemma":0.00001650918,"domain_scores_codex":[0.9970792,0.0001618473,0.0009771835,0.0008849353,0.0003144024,0.0005824393],"domain_scores_gemma":[0.9968186,0.001562407,0.0001679363,0.000363666,0.00008233362,0.001005053],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002762396,0.0009519781,0.9847968,0.0001296235,0.0003116701,0.006484997,0.0002829628,0.000007444547,0.0001814821,0.00005643313,0.002208487,0.004560458],"study_design_scores_gemma":[0.005878463,0.004439068,0.9831619,0.00006558192,0.0004456044,0.0004364723,0.0004811562,0.0009661748,0.00007223185,0.0005342689,0.003431701,0.00008741461],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994165,0.002703166,0.0000345349,0.0004135245,0.0003886451,0.0007215767,0.0001860407,0.00008254852,0.001304932],"genre_scores_gemma":[0.9935667,0.001016974,0.002415551,0.002165353,0.0001963198,0.00002812961,0.0001281335,0.00005367535,0.0004291803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006048524,"threshold_uncertainty_score":0.9998984,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04793390625750737,"score_gpt":0.3042045080717939,"score_spread":0.2562706018142866,"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."}}