{"id":"W2062528789","doi":"10.1002/ajmg.a.32388","title":"Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome","year":2008,"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":33,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"National Institutes of Health","keywords":"Library science; Medical genetics; Gerontology; Medicine; Genetics; Biology","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0001275744,0.0001140296,0.0002252959,0.00006413723,0.00005593968,0.000006267437,0.0002149565,0.00007384148,0.002651086],"category_scores_gemma":[0.0001874251,0.0001030661,0.0001199869,0.0001490548,0.0003995782,0.000003345498,0.00004098273,0.0001513551,0.00001790607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000157554,"about_ca_system_score_gemma":0.0003992982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002109452,"about_ca_topic_score_gemma":0.00004650882,"domain_scores_codex":[0.9986328,0.0000659439,0.0003743427,0.0001449863,0.000584025,0.0001978836],"domain_scores_gemma":[0.9993342,0.00004348351,0.0001782934,0.0001133478,0.00008695391,0.0002436871],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008614608,0.005019527,0.1938235,0.00003015154,0.001270464,0.007963333,0.00131787,0.0008170429,0.004233914,0.0001141046,0.5908279,0.1937208],"study_design_scores_gemma":[0.005219527,0.005289592,0.3618804,0.0001700731,0.00007657288,0.007485649,0.0007808738,0.0001609369,0.0004039644,0.0003355923,0.6175895,0.000607287],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976058,0.0004925857,0.0004340526,0.000516952,0.0001501063,0.0000576169,0.0003746422,0.00000256786,0.0003656638],"genre_scores_gemma":[0.9962856,0.001351992,0.001147148,0.0005484578,0.0001637701,0.00001094053,0.0003407175,0.00001541639,0.0001360227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1931135,"threshold_uncertainty_score":0.9982606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009228886262300031,"score_gpt":0.2593784377854518,"score_spread":0.2501495515231518,"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."}}