{"id":"W4406354311","doi":"10.1186/s13195-024-01661-y","title":"Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease","year":2025,"lang":"en","type":"article","venue":"Alzheimer s Research & Therapy","topic":"14-3-3 protein interactions","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada Research Chairs; University of Toronto","funders":"Dipartimenti di Eccellenza; Università degli Studi di Torino; Consortium canadien en neurodégénérescence associée au vieillissement; Associazione Italiana Ricerca Alzheimer; Fondazione CRT","keywords":"PSEN1; Exome sequencing; Missense mutation; Genetics; Biology; Exome; Early-onset Alzheimer's disease; Alzheimer's disease; Mutation; Gene; Medicine; Disease; Presenilin; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002414507,0.0006736831,0.0004150388,0.0007206684,0.0004130989,0.0003287992,0.000293656,0.0009934087,0.001381779],"category_scores_gemma":[0.0008238146,0.0001163802,0.0005063112,0.0004612826,0.0002973971,0.00008188902,0.0003983082,0.0003181927,0.0004678884],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00033341,"about_ca_system_score_gemma":0.0001266743,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001484171,"about_ca_topic_score_gemma":0.002583756,"domain_scores_codex":[0.9997858,0.00002901678,0.00002287108,0.000075954,0.00005674181,0.00002955234],"domain_scores_gemma":[0.9997142,0.00009432877,0.00006812894,0.00003239417,0.00003471767,0.00005615819],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001765236,0.0002553026,0.190119,0.0003123126,0.0003315258,0.3092117,0.001808279,0.001135527,0.4682539,0.0005111535,0.003515877,0.02278014],"study_design_scores_gemma":[0.0001645904,0.0004759092,0.727197,0.0001108817,0.0003765737,0.2214919,0.0004662494,0.00266752,0.0361914,0.0004682586,0.01033314,0.00005664527],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996277,0.0004607954,0.001111476,0.0001520268,0.00003625308,0.00003455086,0.001154033,0.00004264236,0.0007312635],"genre_scores_gemma":[0.996927,0.0001719894,0.0009806452,0.0002163304,0.00003261452,0.00001923916,0.001040783,0.00001609326,0.0005953458],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001484171,"threshold_uncertainty_score":0.004622519,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08014388194071793,"score_gpt":0.3905617551295269,"score_spread":0.310417873188809,"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."}}