{"id":"W4283687582","doi":"10.1155/2022/4791082","title":"De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome","year":2022,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Medicine; Craniofacial; Mutation; Fibroblast growth factor receptor 1; Magnetic resonance imaging; Pediatrics; Genetic counseling; Internal medicine; Genetics; Gene; Fibroblast growth factor; Biology; Radiology","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":[0.0001303976,0.0001113403,0.0001136056,0.00007149354,0.0001291995,0.00001298088,0.00002747682,0.00007087216,0.0000503552],"category_scores_gemma":[0.00003205387,0.0001307892,0.00003813285,0.0001617413,0.00002396948,0.00000176714,0.000146873,0.00009312759,5.555652e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008916151,"about_ca_system_score_gemma":0.0001002328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001373316,"about_ca_topic_score_gemma":0.0002795564,"domain_scores_codex":[0.9990901,0.0000479057,0.0002613536,0.0002847344,0.000102121,0.0002137422],"domain_scores_gemma":[0.9996021,0.000003710613,0.00007778282,0.0002481701,0.00002528781,0.00004290096],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009954739,0.0007641959,0.176857,0.0000408073,0.00006858655,0.7297102,0.001010712,0.03263856,0.05070046,0.000007621829,0.0001375412,0.007964804],"study_design_scores_gemma":[0.002649036,0.002221583,0.08057731,0.00003374785,0.00009381631,0.8789383,0.001246628,0.001439484,0.01454467,0.0008317923,0.01641226,0.0010114],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979268,0.001278416,0.00007606699,0.00001893438,0.0002554341,0.0001982404,0.000008942554,0.000006140388,0.0002309793],"genre_scores_gemma":[0.9991905,0.00008079706,0.000244047,0.00008909414,0.00001900293,0.00003580983,0.0001064435,0.00002221679,0.0002120577],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1492281,"threshold_uncertainty_score":0.5333429,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01105258700098628,"score_gpt":0.2652368963333043,"score_spread":0.2541843093323181,"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."}}