{"id":"W4306181183","doi":"10.1136/jmg-2022-108739","title":"Heterozygous pathogenic variants involving <i>CBFB</i> cause a new skeletal disorder resembling cleidocranial dysplasia","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; St. John’s Health Sciences Centre","funders":"","keywords":"Cleidocranial Dysplasia; Biology; Genetics; Short stature; Locus (genetics); RUNX2; Dysplasia; Brachydactyly; SNP array; Exome sequencing; Haploinsufficiency; Gene; Transcription factor; Phenotype; Single-nucleotide polymorphism; Genotype; Anatomy","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":[0.00009588592,0.001007314,0.000459224,0.001013726,0.0008844796,0.0002969449,0.0003502668,0.000936282,0.003254283],"category_scores_gemma":[0.0005566102,0.0002487084,0.0002642391,0.0005065502,0.0006447398,0.0001066387,0.0003308585,0.0004784897,0.0003736647],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002638152,"about_ca_system_score_gemma":0.0002125626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002520066,"about_ca_topic_score_gemma":0.004048706,"domain_scores_codex":[0.9997572,0.00001319959,0.00001859583,0.0001129619,0.0000431888,0.00005482784],"domain_scores_gemma":[0.9997447,0.00006427451,0.00006689397,0.00001717168,0.00002082497,0.00008616602],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006232921,0.0003366752,0.2400555,0.0001560376,0.0001597945,0.5457175,0.000800953,0.0003892201,0.1858144,0.0007955562,0.003066129,0.02208489],"study_design_scores_gemma":[0.00009053458,0.0003214091,0.3366879,0.00003426906,0.000113353,0.6504776,0.0001712181,0.0005210805,0.007297711,0.0002721036,0.00398599,0.00002687743],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959725,0.0002680816,0.0008496203,0.00009340228,0.00002917928,0.00006395448,0.000392416,0.00006920387,0.002261619],"genre_scores_gemma":[0.9974261,0.0001367217,0.0009976143,0.0001455818,0.00005644644,0.00002178856,0.000365872,0.0000184504,0.0008313468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003254283,"threshold_uncertainty_score":0.01088673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01368345231751366,"score_gpt":0.2734041632830652,"score_spread":0.2597207109655515,"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."}}