{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008995361,0.00008594571,0.0001646568,0.0001868376,0.000124407,0.000003467776,0.00003377536,0.0001138796,0.0003130611],"category_scores_gemma":[0.00004927001,0.00008423625,0.00003794397,0.000245616,0.00006566904,0.00007395446,0.00001092505,0.0001984087,0.0006053836],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005964602,"about_ca_system_score_gemma":0.00004031373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006936116,"about_ca_topic_score_gemma":0.00004304888,"domain_scores_codex":[0.9992722,0.00003938097,0.0002502181,0.0001728393,0.0001166866,0.0001486519],"domain_scores_gemma":[0.9996716,0.00003057518,0.00006269214,0.0001328343,0.00004976213,0.00005256345],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002651149,0.001547607,0.8103418,0.0002505146,0.0001791472,0.02683494,0.03122284,0.002847029,0.04096157,0.07698796,0.00194995,0.006611526],"study_design_scores_gemma":[0.001147881,0.0002313735,0.9941571,0.00002872825,0.00002808924,0.001348631,0.00004602284,0.0006434561,0.00007765635,0.002148821,0.0000634893,0.0000787578],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992483,0.0002200466,0.0001330143,0.0001835839,0.0001137439,0.000224099,0.000001659354,0.00008222712,0.006558617],"genre_scores_gemma":[0.9953949,0.000006419284,0.0002945116,0.0001852519,0.00003410683,0.00001368717,0.0001704474,0.00001592191,0.003884723],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1838153,"threshold_uncertainty_score":0.7781183,"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."}}