{"id":"W3217643062","doi":"10.3233/jnd-210728","title":"Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes","year":2021,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Phenotype; Disease; Enzyme replacement therapy; Clinical phenotype; Age of onset; Mutation","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":[0.00005648463,0.0001289215,0.000278671,0.000117344,0.00009176946,0.00005975164,0.00007556114,0.00002691404,0.0001352559],"category_scores_gemma":[0.0008223751,0.00009385955,0.0001689995,0.0002633625,0.0001463916,0.0001553501,0.00005226956,0.0002287097,0.000004889554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002785804,"about_ca_system_score_gemma":0.0005985622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002168639,"about_ca_topic_score_gemma":0.000002977754,"domain_scores_codex":[0.998675,0.00008128618,0.000239589,0.000191182,0.0006167646,0.0001961543],"domain_scores_gemma":[0.9984047,0.0001157205,0.00009921043,0.0002077307,0.0004575822,0.0007150958],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01115806,0.00474444,0.9255652,0.0007313194,0.001040199,0.03719933,0.000257721,0.0005595388,0.01172874,0.000227203,0.001238408,0.005549788],"study_design_scores_gemma":[0.002571611,0.000370051,0.9929972,0.0001598739,0.0006493852,0.00105082,0.00009437581,0.0002332571,0.0001147853,0.0001759624,0.001476819,0.0001058935],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907381,0.004864935,0.0003623705,0.003743105,0.00004919079,0.0001276046,0.00006169803,0.00001425029,0.00003872379],"genre_scores_gemma":[0.9983017,0.000279779,0.0005326534,0.0005504927,0.0001152601,0.000003425609,0.000025393,0.00002713179,0.0001641636],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06743192,"threshold_uncertainty_score":0.3827482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01900137613094276,"score_gpt":0.2841211011247604,"score_spread":0.2651197249938176,"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."}}