{"id":"W3003279764","doi":"10.1016/j.ymgme.2019.11.157","title":"Intrafamilial variability in late-onset CLN2 disease","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Disease; Medicine; Demography; Internal medicine; Sociology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000630467,0.0005713078,0.0004456539,0.002062441,0.0006211326,0.0006414696,0.0004851142,0.0007360931,0.005031762],"category_scores_gemma":[0.002085639,0.0001846653,0.0004260458,0.001391726,0.0003407571,0.0003180529,0.0005743516,0.0005716207,0.0006938507],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000310419,"about_ca_system_score_gemma":0.0001968272,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001426074,"about_ca_topic_score_gemma":0.002164812,"domain_scores_codex":[0.9990013,0.0002803807,0.0001069837,0.0003472436,0.0001600558,0.0001040097],"domain_scores_gemma":[0.9981884,0.0007788825,0.0004593987,0.0002082017,0.0001722742,0.0001927847],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001622884,0.0001394745,0.7803402,0.000130817,0.0004396428,0.01774088,0.003112708,0.0008865416,0.160283,0.001108568,0.001384962,0.0328104],"study_design_scores_gemma":[0.00001901632,0.000145197,0.9556258,0.00006178792,0.0001601752,0.03112381,0.0006467552,0.0007547494,0.007351548,0.0005721887,0.003497983,0.00004095742],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957267,0.0003898347,0.001000036,0.00008503038,0.00001724745,0.000006109361,0.0006806867,0.0000326527,0.002061833],"genre_scores_gemma":[0.9981161,0.0001279439,0.0005298687,0.00003582808,0.00001451551,0.000008431291,0.0004551567,0.00005043731,0.0006616253],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005031762,"threshold_uncertainty_score":0.01683295,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01469867088357705,"score_gpt":0.2695726537179294,"score_spread":0.2548739828343524,"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."}}