{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004235289,0.0005571651,0.0003904352,0.0008667355,0.0004365657,0.0003635889,0.0001743497,0.0006034263,0.002108378],"category_scores_gemma":[0.003046421,0.0001958589,0.0001960491,0.0003768573,0.0003625457,0.0002069492,0.0003501738,0.0003505275,0.0003720894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001026054,"about_ca_system_score_gemma":0.00008172886,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000619479,"about_ca_topic_score_gemma":0.0006838571,"domain_scores_codex":[0.9994493,0.0001451848,0.0000726263,0.0001595509,0.0000972231,0.00007602378],"domain_scores_gemma":[0.9984179,0.0008612107,0.000353855,0.0001010331,0.0001133093,0.0001527013],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00041235,0.00007900564,0.9669771,0.0000163853,0.00006466813,0.01289057,0.0004008086,0.0003025692,0.01322626,0.0001788834,0.0002113438,0.005240238],"study_design_scores_gemma":[0.00002799602,0.0006265123,0.9393475,0.00001735501,0.00008539602,0.05390272,0.0003810522,0.0008852627,0.003507458,0.0003842081,0.0008062227,0.00002825687],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987125,0.000103883,0.0002402153,0.0000385904,0.00000604557,0.000007423552,0.00008378459,0.00001019366,0.0007972729],"genre_scores_gemma":[0.9994629,0.00003357026,0.0002312051,0.00002891508,0.000006005114,0.000004261513,0.00009795109,0.000005442368,0.0001297998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002108378,"threshold_uncertainty_score":0.007053196,"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."}}