{"id":"W1601692504","doi":"10.3233/jad-2010-1292","title":"Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations","year":2010,"lang":"en","type":"article","venue":"Journal of Alzheimer s Disease","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Michael's Hospital","funders":"","keywords":"Presenilin; Disease; Genetics; Mutation; Medicine; Alzheimer's disease; Psychology; Biology; 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":[0.0004255981,0.001116329,0.0004492225,0.001539571,0.001056326,0.000337311,0.0003120471,0.0007103853,0.002325936],"category_scores_gemma":[0.002651642,0.0003106431,0.0002878285,0.0006679441,0.000691816,0.0002889848,0.0006158847,0.0003122134,0.0003306589],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002445285,"about_ca_system_score_gemma":0.0002004511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001792365,"about_ca_topic_score_gemma":0.002377607,"domain_scores_codex":[0.9995133,0.0001091052,0.00007727145,0.0001091445,0.0001161191,0.00007502817],"domain_scores_gemma":[0.9987721,0.000412452,0.0003687794,0.00003908901,0.0001633111,0.0002442472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000965119,0.0002176255,0.8654805,0.0001227491,0.0001734063,0.09481039,0.001479178,0.0005091273,0.02539223,0.0002109041,0.0007898481,0.009848962],"study_design_scores_gemma":[0.00006711241,0.0004269993,0.8262751,0.00004356829,0.0001470879,0.1684042,0.000491126,0.0003206186,0.001943897,0.0002923814,0.001549925,0.00003801254],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998752,0.0002663836,0.0001159454,0.0000352276,0.000006891072,0.00001014286,0.00007947926,0.000008389653,0.0007255179],"genre_scores_gemma":[0.999273,0.0001069833,0.0001865145,0.0000498385,0.00001607067,0.00001004368,0.0001671432,0.00000574051,0.0001846241],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002325936,"threshold_uncertainty_score":0.007780969,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04201831176722387,"score_gpt":0.3686863860422636,"score_spread":0.3266680742750397,"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."}}