{"id":"W2004436047","doi":"10.1002/humu.20750","title":"Genotype-phenotype correlations in MYCN-related Feingold syndrome","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Esophageal and GI Pathology","field":"Medicine","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Biology; Genetics; Missense mutation; Syndactyly; Exon; Haploinsufficiency; Phenotype; Gene; Germline mutation; Nonsense-mediated decay; Microcephaly; Mutation; RNA splicing","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":[0.0002774688,0.0005285129,0.0004158752,0.0009696716,0.000222168,0.0002555701,0.0001436982,0.0005256111,0.001898347],"category_scores_gemma":[0.002194027,0.0001699,0.0001794363,0.0004050253,0.0002717252,0.0001800095,0.0002722416,0.0002266121,0.0003219251],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000141729,"about_ca_system_score_gemma":0.00009692815,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004892906,"about_ca_topic_score_gemma":0.0005065266,"domain_scores_codex":[0.9995214,0.0001204379,0.00005942934,0.000141537,0.0001028346,0.0000543495],"domain_scores_gemma":[0.998936,0.0005277168,0.0002554041,0.00005131768,0.00009389361,0.0001356619],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006195913,0.00008629481,0.920692,0.00005047434,0.0001275804,0.02139027,0.0003553737,0.0005725034,0.04561137,0.0001692916,0.0002961182,0.01002916],"study_design_scores_gemma":[0.00002784322,0.0004140919,0.9407104,0.00001603986,0.0000781526,0.05179736,0.0001815505,0.0008240151,0.004626826,0.0002977964,0.001002244,0.00002374399],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984353,0.0002889376,0.0003649711,0.00003449305,0.000007828975,0.000008320495,0.0001311935,0.00001549766,0.0007133834],"genre_scores_gemma":[0.9994813,0.00006003504,0.000175761,0.00001939368,0.000006160464,0.000004519893,0.0001129242,0.000008210635,0.0001317786],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001898347,"threshold_uncertainty_score":0.006350636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02858390013315681,"score_gpt":0.2817987705513457,"score_spread":0.2532148704181889,"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."}}