{"id":"W2980635490","doi":"10.1016/j.jalz.2019.06.692","title":"P1‐137: CLINICAL DETAILS OF THE ILE213LEU PSEN1 MUTATION IN A FAMILY WITH EARLY ONSET FAMILIAL ALZHEIMER DISEASE","year":2019,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Proband; Mutation; Disease; Early-onset Alzheimer's disease; Phenotype; Presenilin; Genetics; Apolipoprotein E; Biology; Daughter; PSEN1; Alzheimer's disease; Medicine; Internal medicine; Gene","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":[0.0002190369,0.001387194,0.0006930359,0.001459786,0.001298634,0.0004676556,0.0005306752,0.001796301,0.003605701],"category_scores_gemma":[0.001374727,0.0004419507,0.0004693121,0.0009448774,0.0007270967,0.0005771118,0.0006349567,0.001034493,0.0007820622],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000615439,"about_ca_system_score_gemma":0.0004441547,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003493657,"about_ca_topic_score_gemma":0.002235381,"domain_scores_codex":[0.9996731,0.00003074601,0.00004093739,0.000140276,0.00006255967,0.00005226368],"domain_scores_gemma":[0.9994975,0.0001435348,0.00009819205,0.0000228403,0.00003932368,0.000198576],"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":[0.0001522942,0.0001180726,0.0373211,0.00005457027,0.00002124986,0.9543383,0.0007363281,0.0001238463,0.003108219,0.000115925,0.0006533364,0.003256761],"study_design_scores_gemma":[0.00001880786,0.0002352812,0.05793958,0.00003658838,0.00003505744,0.938535,0.0001856657,0.0002342805,0.0007769942,0.0001637378,0.001806769,0.00003234753],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919271,0.00155432,0.0006716052,0.0007144486,0.00008622335,0.00008097802,0.0005891655,0.00004528847,0.004330847],"genre_scores_gemma":[0.9968638,0.000789303,0.000360579,0.0002546574,0.0001533932,0.00002144916,0.0002828057,0.00001697283,0.001256988],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003605701,"threshold_uncertainty_score":0.01206225,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03855169957374441,"score_gpt":0.3296865781764376,"score_spread":0.2911348786026932,"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."}}