{"id":"W2079477526","doi":"10.1086/323123","title":"p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation","year":2001,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":378,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Ectrodactyly; Missense mutation; Exon; Genetics; Nonsense mutation; Biology; Mutation; Hypoplasia; Frameshift mutation; Syndactyly; Gene; Ectodermal dysplasia; 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":[0.0002102709,0.0008284528,0.000495153,0.001710511,0.0003934735,0.0004308827,0.0004380272,0.00102626,0.004475137],"category_scores_gemma":[0.001880283,0.0002756555,0.0002486548,0.0007777842,0.0008661588,0.0003000237,0.000517918,0.0005945907,0.0004588285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001657447,"about_ca_system_score_gemma":0.0001664182,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005334703,"about_ca_topic_score_gemma":0.0006944722,"domain_scores_codex":[0.999733,0.0000501881,0.00003285877,0.00005584158,0.00008510895,0.00004291412],"domain_scores_gemma":[0.9983821,0.0009200302,0.0002666748,0.0001252922,0.00009459713,0.0002112476],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002129243,0.000278811,0.3510134,0.0001749785,0.0002695817,0.2480732,0.0008219029,0.00156315,0.3634598,0.003493103,0.0009107055,0.02781214],"study_design_scores_gemma":[0.000133271,0.0002807654,0.5224878,0.0000357423,0.0002007467,0.4344362,0.0003088287,0.002699213,0.03545745,0.001965589,0.001946981,0.0000473822],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946842,0.0007171354,0.001400599,0.0002437072,0.00001964377,0.00001181696,0.000186529,0.00006166175,0.002674655],"genre_scores_gemma":[0.99862,0.0001948561,0.0006189176,0.00003862386,0.00002021499,0.000006398762,0.0001008334,0.00001903992,0.0003810883],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004475137,"threshold_uncertainty_score":0.01497084,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01136954219852511,"score_gpt":0.2509902373753706,"score_spread":0.2396206951768455,"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."}}