{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001142867,0.0005282699,0.0002211925,0.0007218767,0.0003016896,0.0002607397,0.0002086814,0.0002506215,0.001721171],"category_scores_gemma":[0.0007293,0.0002482008,0.0001603844,0.0003804539,0.0005114304,0.0001228153,0.000374384,0.0001851417,0.0002341099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002043987,"about_ca_system_score_gemma":0.0001541275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002221758,"about_ca_topic_score_gemma":0.002661444,"domain_scores_codex":[0.9998517,0.00002267798,0.00001775043,0.0000456687,0.00002421991,0.00003801441],"domain_scores_gemma":[0.9996759,0.00006188083,0.0001499991,0.00002297345,0.00002443758,0.00006485445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0003007733,0.0001046058,0.7705715,0.0001253719,0.00009811849,0.1011292,0.0008165631,0.000180749,0.1144232,0.000286161,0.0003406866,0.01162299],"study_design_scores_gemma":[0.00004487068,0.0002943069,0.6618242,0.00003863523,0.00006887843,0.3260458,0.00049812,0.0005032768,0.00944998,0.0001872649,0.001026401,0.00001829371],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992653,0.00009745535,0.000121567,0.00001408025,0.000001291029,0.000004357868,0.00004033178,0.000006791367,0.0004488952],"genre_scores_gemma":[0.9996523,0.0000548062,0.0001534204,0.00001141368,0.000002574565,0.000002282525,0.00003251374,0.000001988984,0.00008869079],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002221758,"threshold_uncertainty_score":0.005757928,"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."}}