{"id":"W2039954682","doi":"10.1002/ajmg.a.36051","title":"Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"","keywords":"Dysostosis; Craniofacial; Genetics; Biology; Consanguinity; Autosomal recessive inheritance; Hypoplasia; Medicine; Anatomy; Gene; Congenital disease; Internal medicine","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":[0.0001854055,0.0001911086,0.0003717466,0.00008544221,0.00004967112,0.00004423409,0.0003787622,0.000108284,0.0001467929],"category_scores_gemma":[0.00008922922,0.0001473568,0.00007103051,0.0002938614,0.0002360935,0.0000127272,0.00008443986,0.0001949634,0.00001489378],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002136288,"about_ca_system_score_gemma":0.0002571918,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001152484,"about_ca_topic_score_gemma":0.0002154427,"domain_scores_codex":[0.9982831,0.00009863066,0.0004135895,0.0002623211,0.0005962477,0.0003460647],"domain_scores_gemma":[0.9988428,0.00001314777,0.0002193459,0.000224613,0.0001653857,0.0005346488],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001093216,0.001644967,0.6878384,0.00002703222,0.0005157655,0.001092906,0.00173968,0.000727967,0.04117199,0.00001402116,0.002753741,0.2613803],"study_design_scores_gemma":[0.005201147,0.02458325,0.9389409,0.0003622051,0.000110515,0.0007854832,0.002682397,0.0002278956,0.006425667,0.0001343474,0.01956459,0.0009816462],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973796,0.0003116771,0.0004724608,0.001422661,0.0001243871,0.0001902649,0.000009752495,0.000003806881,0.00008535969],"genre_scores_gemma":[0.9959907,0.0004261258,0.002253443,0.001124018,0.0001050933,0.0000249168,0.000009510827,0.00002611397,0.00004010048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2603986,"threshold_uncertainty_score":0.6009037,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007051275867038327,"score_gpt":0.2702904426987153,"score_spread":0.263239166831677,"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."}}