{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001687699,0.0004652099,0.0002736841,0.001014616,0.0003042516,0.0002821328,0.0002770722,0.0005534207,0.002062408],"category_scores_gemma":[0.0009652872,0.000180225,0.0003948377,0.0005745244,0.0003761291,0.0001065205,0.0003602588,0.000294571,0.000325754],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001627335,"about_ca_system_score_gemma":0.0001379858,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001724879,"about_ca_topic_score_gemma":0.001723845,"domain_scores_codex":[0.9997812,0.00003043373,0.0000288171,0.00007248404,0.00005134411,0.00003566709],"domain_scores_gemma":[0.9996809,0.0000961997,0.0001198581,0.00002964682,0.0000217175,0.0000516712],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001244023,0.0001394172,0.6501565,0.0001885996,0.0003486621,0.09276342,0.001580269,0.001026793,0.2208449,0.0007897691,0.0006785072,0.03023918],"study_design_scores_gemma":[0.00007025696,0.0001674117,0.805736,0.00007961953,0.0002294343,0.1588755,0.0003843221,0.001899814,0.02847095,0.0004131602,0.003635376,0.00003821608],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984599,0.0002731026,0.0005120247,0.00004110528,0.000005252912,0.000009562728,0.000207679,0.00002241868,0.0004688672],"genre_scores_gemma":[0.9991443,0.00008168023,0.0003822054,0.00002624932,0.000006046223,0.000006216937,0.0001653158,0.000009694279,0.0001782419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002062408,"threshold_uncertainty_score":0.006899476,"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."}}