{"id":"W3135315131","doi":"10.1002/jmd2.12211","title":"Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct <scp><i>GLB1</i></scp>‐related phenotype","year":2021,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Instituto Nacional de Genética Médica Populacional; University of British Columbia","keywords":"Phenotype; Dysostosis; Medicine; Genetics; Pathology; Biology; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004317558,0.0004363483,0.0006846043,0.0001914672,0.0003150775,0.0001507339,0.0001618356,0.0002741889,0.0003694067],"category_scores_gemma":[0.002863981,0.0003544239,0.0002542461,0.00112182,0.0002182199,0.0001958698,0.0003212991,0.0009844443,0.00007140654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001213337,"about_ca_system_score_gemma":0.0006227784,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000428491,"about_ca_topic_score_gemma":0.0001672904,"domain_scores_codex":[0.9955735,0.0001729706,0.0007261405,0.00119959,0.001415285,0.0009125091],"domain_scores_gemma":[0.9968394,0.0002754484,0.0004068567,0.001294998,0.0007103958,0.0004729092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001295899,0.001009748,0.8484889,0.0006248413,0.0006383301,0.08020655,0.002849209,0.0000629071,0.03569593,0.00001707918,0.02639066,0.003886304],"study_design_scores_gemma":[0.002587077,0.0004714106,0.9060559,0.0003544253,0.0005383138,0.01569138,0.0009128363,0.000791364,0.02891888,0.0001660223,0.04313233,0.0003800821],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9723337,0.002518286,0.00005397043,0.001195298,0.0004113852,0.0008438471,0.0000104934,0.0002985127,0.02233449],"genre_scores_gemma":[0.9669641,0.00006724316,0.0006188301,0.0006685384,0.0001852445,0.00008123169,0.0001671088,0.0001389321,0.03110879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06451517,"threshold_uncertainty_score":0.9998908,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01468888809625519,"score_gpt":0.2663100048022153,"score_spread":0.2516211167059602,"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."}}