{"id":"W2100230804","doi":"10.1002/ajmg.a.30005","title":"A novel missense mutation in the galactosyltransferase‐I (<i>B4GALT7</i>) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type","year":2004,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":109,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Missense mutation; Ehlers–Danlos syndrome; Genetics; Biology; Galactosyltransferase; Mutation; Gene; Medicine; Pathology","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":[0.001751556,0.0001511488,0.0002810066,0.0001295363,0.00006908817,0.00003979518,0.0003640527,0.00008218914,0.0000054872],"category_scores_gemma":[0.0008658556,0.00009946455,0.00007729445,0.0004450437,0.0004836202,0.000006746519,0.00006773056,0.0004644459,0.000001143222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002577139,"about_ca_system_score_gemma":0.0004167963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001196089,"about_ca_topic_score_gemma":0.0002608646,"domain_scores_codex":[0.9978855,0.0002972769,0.0004865319,0.0002216428,0.0007777781,0.0003312447],"domain_scores_gemma":[0.9992312,0.0001576903,0.0001537622,0.0001824558,0.0001418244,0.00013306],"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":[0.0009001471,0.0006776781,0.02070857,0.00007311505,0.0002302189,0.001792543,0.006662896,0.001750949,0.9293033,0.00006124458,0.00007194481,0.03776737],"study_design_scores_gemma":[0.03959385,0.02858747,0.5867726,0.002515888,0.0003716936,0.05147945,0.1319608,0.003481466,0.1419978,0.001296836,0.009076897,0.002865161],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910435,0.003877355,0.001428412,0.003301396,0.00004596289,0.0002720433,0.000003839229,0.000001914299,0.00002554871],"genre_scores_gemma":[0.9973465,0.001587447,0.0004755898,0.0004573539,0.00009134208,0.00001352822,0.00000630344,0.00001773788,0.000004210758],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7873055,"threshold_uncertainty_score":0.4056047,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02448659556808736,"score_gpt":0.3140010199708635,"score_spread":0.2895144244027761,"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."}}