{"id":"W4415666383","doi":"10.1038/s41431-025-01973-z","title":"Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis","year":2025,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Missense mutation; Homeobox; Phenotype; Ankylosis; Loss function; Mutation; Frameshift mutation; Genetic heterogeneity","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":[0.0005486449,0.0001769823,0.0002772831,0.0001909464,0.00004981636,0.00002184537,0.000382891,0.00005413975,0.00003003218],"category_scores_gemma":[0.00009572332,0.0001688771,0.0001669008,0.0001651142,0.0001208437,0.000002916188,0.0001296544,0.0001291939,0.000004193816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001439119,"about_ca_system_score_gemma":0.0001557142,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002052382,"about_ca_topic_score_gemma":0.000004219082,"domain_scores_codex":[0.998237,0.0004264787,0.0007263555,0.0002050797,0.00018724,0.000217812],"domain_scores_gemma":[0.998902,0.00001205587,0.0003300309,0.0003867543,0.0002220921,0.0001470317],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000146506,0.0002243707,0.01034761,0.000064133,0.0001856886,0.0004144658,0.0001618483,0.0003103945,0.9822494,0.000044538,0.004785967,0.00106507],"study_design_scores_gemma":[0.006083099,0.002477753,0.5920144,0.000524892,0.0003683133,0.0002426531,0.0008151753,0.00002474924,0.3666029,0.0009775878,0.02924784,0.0006206218],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914461,0.005019156,0.0008292912,0.0001420585,0.0001615778,0.00009748708,0.00001880434,0.000002712942,0.002282819],"genre_scores_gemma":[0.9966206,0.0005208363,0.002006165,0.000256935,0.0001741186,5.809078e-7,0.00001561438,0.0000290509,0.0003761326],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6156465,"threshold_uncertainty_score":0.6886609,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01022932778211917,"score_gpt":0.2647582303880084,"score_spread":0.2545289026058893,"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."}}