{"id":"W4380627434","doi":"10.1155/2023/3437706","title":"A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant","year":2023,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan","funders":"","keywords":"Medicine; Prenatal diagnosis; Presentation (obstetrics); Fetus; Genetic disorder; Hypotonia; Noonan syndrome; Intellectual disability; Genetics; Pregnancy; Pediatrics; Pathology; Biology; Psychiatry; Obstetrics","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":[0.0002359166,0.001434026,0.0008342452,0.001630617,0.001193645,0.0005286807,0.0008320569,0.0028502,0.00239658],"category_scores_gemma":[0.002928129,0.00070327,0.0005200853,0.0008890497,0.001368335,0.0007223544,0.001205268,0.001732955,0.0003757951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007257671,"about_ca_system_score_gemma":0.0006561067,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002613519,"about_ca_topic_score_gemma":0.00208439,"domain_scores_codex":[0.9993908,0.00007133051,0.00004848636,0.0002199713,0.0001307892,0.0001384843],"domain_scores_gemma":[0.9986915,0.0005638736,0.0002317341,0.00008200976,0.00007803403,0.0003529452],"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":[0.00002478423,0.00001391924,0.002830715,0.00001502344,0.000004530626,0.9929628,0.0001347536,0.00007553794,0.002184954,0.0003251501,0.0002203446,0.001207625],"study_design_scores_gemma":[0.000006611984,0.00003712517,0.002732248,0.000007546565,0.000006423037,0.9955585,0.00003940528,0.0001837094,0.0009847425,0.0001638319,0.0002728887,0.000006918318],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9807258,0.001635889,0.007211033,0.002916085,0.0002821019,0.0001285957,0.0004677526,0.0002832843,0.006349459],"genre_scores_gemma":[0.9949368,0.000661698,0.002645393,0.0003250219,0.0001856766,0.00002680406,0.0001082477,0.00003154882,0.001078838],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0028502,"threshold_uncertainty_score":0.008017361,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01727953210676411,"score_gpt":0.2761051984487377,"score_spread":0.2588256663419736,"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."}}