{"id":"W4386697219","doi":"10.1038/s41431-023-01447-0","title":"Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Wellcome Trust","keywords":"Missense mutation; Genetics; Camptodactyly; Allele; Intellectual disability; Biology; Phenotype; Medical genetics; Dermatology; Medicine; Gene","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":[0.0004145725,0.001261311,0.0006879086,0.001796161,0.000921108,0.0006001916,0.000590961,0.000640657,0.002049736],"category_scores_gemma":[0.00240501,0.0005759798,0.0005096481,0.0008172698,0.001095497,0.0004298734,0.0009521509,0.0004171857,0.000279224],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004784904,"about_ca_system_score_gemma":0.0003775485,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002943988,"about_ca_topic_score_gemma":0.002270387,"domain_scores_codex":[0.9994047,0.00009641657,0.00007193992,0.0001984689,0.0001038901,0.0001246396],"domain_scores_gemma":[0.9992222,0.000238211,0.0001616436,0.00006461362,0.00009956852,0.0002138083],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006127559,0.000410712,0.7770805,0.00008259703,0.0001567177,0.1671578,0.003459304,0.0005345495,0.01317325,0.0006398935,0.001000179,0.03569176],"study_design_scores_gemma":[0.0001283021,0.0004505638,0.6119735,0.00006742816,0.0001300338,0.3794216,0.0008540174,0.0008008552,0.001473171,0.0006287187,0.004002676,0.00006910245],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984891,0.0002585749,0.0003620556,0.000041811,0.000008592565,0.0000217032,0.00007850268,0.00001579273,0.000723844],"genre_scores_gemma":[0.9982279,0.0002622133,0.0007024782,0.00005144418,0.00002537759,0.00003340109,0.0002575172,0.00001189932,0.0004277848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002943988,"threshold_uncertainty_score":0.006857097,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03238035576566026,"score_gpt":0.2978337526566363,"score_spread":0.265453396890976,"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."}}