{"id":"W2023893089","doi":"10.1111/j.1468-1331.2008.02256.x","title":"A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment","year":2008,"lang":"en","type":"article","venue":"European Journal of Neurology","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"Novo Nordisk Fonden; Rigshospitalet; Fondation pour la Recherche sur Alzheimer; Gentofte Hospital; Wellcome Trust","keywords":"Missense mutation; Genetics; Presenilin; Mutation; Exon; PSEN1; Dementia; Gene; Medicine; Valine; Biology; Alzheimer's disease; Disease; Amino acid; Internal medicine","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":[0.000191012,0.001056595,0.0004632854,0.0008635235,0.0008716775,0.0003173523,0.0004336372,0.001591745,0.002034474],"category_scores_gemma":[0.0006800425,0.0002982634,0.0004581218,0.0003612725,0.000568331,0.0002864436,0.0004746818,0.0007865072,0.000452412],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004999821,"about_ca_system_score_gemma":0.0004216796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001571188,"about_ca_topic_score_gemma":0.002080941,"domain_scores_codex":[0.9998754,0.00001365757,0.00001488278,0.00003558805,0.00002292406,0.00003751839],"domain_scores_gemma":[0.9997156,0.00009154511,0.00004842143,0.00001243413,0.00002085998,0.0001111846],"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":[0.0002810177,0.0001517091,0.01322797,0.00004178545,0.00002348001,0.9632564,0.000363193,0.00009621361,0.01847257,0.0002443318,0.0004428917,0.003398383],"study_design_scores_gemma":[0.00007878324,0.0003640844,0.04918656,0.00002048999,0.00005534885,0.9430488,0.0001176929,0.0003356919,0.005419537,0.0004266399,0.0009224738,0.00002379017],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969667,0.0002708907,0.0003389361,0.0002372125,0.00003876758,0.00003196711,0.00006982971,0.00003462341,0.002011187],"genre_scores_gemma":[0.9989048,0.00009768515,0.0002649433,0.000135566,0.00003700762,0.000006892606,0.0000414278,0.000005939191,0.0005055585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002034474,"threshold_uncertainty_score":0.006806016,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02621592443479272,"score_gpt":0.2885650475975561,"score_spread":0.2623491231627634,"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."}}