{"id":"W2783930882","doi":"10.1002/humu.23400","title":"Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Common Fund; National Institute on Deafness and Other Communication Disorders; NIH Office of the Director; National Human Genome Research Institute; Office of Strategic Coordination; National Institutes of Health; Agence Nationale de la Recherche","keywords":"Biology; Haploinsufficiency; Genetics; Phenotype; Genotype; Genotype-phenotype distinction; Gene","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":[0.0001174306,0.00009039995,0.0001284676,0.0001441035,0.0001084418,0.00001952895,0.00003728649,0.00005742013,0.0005713113],"category_scores_gemma":[0.00004145687,0.00007593966,0.00002457578,0.000255387,0.00008275702,0.0001078274,0.00001493,0.00009755814,0.0003371384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003538891,"about_ca_system_score_gemma":0.00006692264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007002312,"about_ca_topic_score_gemma":0.0007032411,"domain_scores_codex":[0.9993097,0.0000284695,0.0001790505,0.0001715049,0.0001674689,0.0001437803],"domain_scores_gemma":[0.9996079,0.00002614924,0.00005763803,0.0001392538,0.0001141882,0.00005489007],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004044098,0.0004786347,0.9146832,0.00008055856,0.0001625028,0.0001857945,0.01183623,0.0000270539,0.02847572,0.01094072,0.0006865953,0.0320386],"study_design_scores_gemma":[0.001293463,0.0005602682,0.9955485,0.0000438027,0.00006448918,0.00004468881,0.000186137,0.0001373561,0.0003850027,0.001114102,0.0005165965,0.0001056352],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9832825,0.00008044467,0.0003294012,0.0001094941,0.00006246829,0.0002748479,0.000009034899,0.00004854814,0.01580324],"genre_scores_gemma":[0.9970581,0.000001753321,0.0009435823,0.0001875182,0.00017079,0.00001384791,0.0001192542,0.00001681055,0.00148837],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08086527,"threshold_uncertainty_score":0.6255458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02118261023272595,"score_gpt":0.2775609916992879,"score_spread":0.2563783814665619,"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."}}