{"id":"W2117564797","doi":"10.1136/jmg.37.1.64","title":"Molecular diagnosis is important to confirm suspected pseudoachondroplasia","year":2000,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Faculty of Medicine, Dalhousie University; Dalhousie University; Medical Research Council Canada; Institut National de la Santé et de la Recherche Médicale; University of Otago; Medical Research Council; Dunhill Medical Trust; Dalhousie Medical Research Foundation","keywords":"Medicine; Genetics; Internal medicine; Bioinformatics; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007327603,0.001120351,0.001290167,0.001416913,0.001251269,0.0009503732,0.0009160169,0.009737419,0.009135396],"category_scores_gemma":[0.007298272,0.0004180412,0.0007333093,0.0005090616,0.0015732,0.001838097,0.0003037091,0.006551811,0.004457861],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008153392,"about_ca_system_score_gemma":0.0005160443,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001678941,"about_ca_topic_score_gemma":0.00237898,"domain_scores_codex":[0.9993885,0.000136657,0.00006546689,0.00008721309,0.0001712213,0.0001509214],"domain_scores_gemma":[0.9969151,0.001850961,0.000174927,0.000142007,0.0004029305,0.0005140731],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005474848,0.0002991122,0.03671059,0.0003094145,0.00006717453,0.8221893,0.000237941,0.0005342967,0.00638639,0.002148313,0.09985989,0.03070995],"study_design_scores_gemma":[0.0001947616,0.000373618,0.03117143,0.0002903448,0.00006368365,0.911515,0.0004667167,0.002397252,0.003409613,0.006981869,0.04307028,0.00006539262],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.2722525,0.01426861,0.008561229,0.546646,0.01396215,0.0003321736,0.0008310776,0.0009896407,0.1421565],"genre_scores_gemma":[0.8262755,0.01027268,0.008741977,0.0935299,0.03030272,0.0001160284,0.000606737,0.000184609,0.02996978],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.009737419,"threshold_uncertainty_score":0.03056097,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008817451245561223,"score_gpt":0.2482191971123887,"score_spread":0.2394017458668275,"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."}}