{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001213927,0.0007151851,0.0003765147,0.0005365599,0.0003770839,0.0003219441,0.0002698787,0.001389132,0.001360727],"category_scores_gemma":[0.0009790835,0.0002236943,0.0003093946,0.0002553914,0.0005138771,0.0002521596,0.0003302714,0.0005750338,0.0002733975],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000237871,"about_ca_system_score_gemma":0.000219851,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001095109,"about_ca_topic_score_gemma":0.001151553,"domain_scores_codex":[0.9998202,0.00001679143,0.00002323865,0.00005231969,0.00004111474,0.00004639969],"domain_scores_gemma":[0.9997665,0.00008503335,0.0000581974,0.00001249763,0.00001466486,0.00006317558],"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":[0.00003147583,0.00001843164,0.01066596,0.00001894056,0.000007347229,0.9766755,0.000144449,0.00008796438,0.009203901,0.0002212648,0.0003197094,0.00260506],"study_design_scores_gemma":[0.000007727335,0.00005825852,0.009963267,0.000009058698,0.00001074402,0.9865433,0.00006122197,0.0001833774,0.002473935,0.0001020841,0.0005799502,0.000007114981],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916177,0.001073312,0.002501739,0.0005776353,0.00009580977,0.0000475328,0.0002273128,0.0000976621,0.003761382],"genre_scores_gemma":[0.9979191,0.0003097283,0.0007573786,0.0001362359,0.0000739091,0.000007643283,0.00006264203,0.00001199492,0.0007213399],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001389132,"threshold_uncertainty_score":0.004552066,"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."}}