{"id":"W2009431345","doi":"10.1136/jnnp.2009.192310","title":"Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?","year":2010,"lang":"de","type":"article","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Hôpital Notre-Dame; Université de Montréal","funders":"","keywords":"SOD1; Pedigree chart; Genetics; Penetrance; Amyotrophic lateral sclerosis; Mutation; Gene; Biology; Missense mutation; Disease; Medicine; Phenotype; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.001945075,0.0008928622,0.001849232,0.001131687,0.0006461093,0.0002245007,0.0009965869,0.0005739948,0.0003147731],"category_scores_gemma":[0.00305766,0.0007679345,0.001752905,0.000691836,0.0009192079,0.0006287799,0.0002282355,0.004806944,0.0001714744],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005644694,"about_ca_system_score_gemma":0.001899739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003169013,"about_ca_topic_score_gemma":0.0001958747,"domain_scores_codex":[0.9912445,0.001094937,0.003264579,0.001113355,0.001502835,0.001779816],"domain_scores_gemma":[0.9907686,0.002671442,0.003023986,0.001078916,0.001246246,0.001210853],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01087541,0.004249309,0.6245886,0.0006377926,0.002080887,0.006437988,0.0005412626,0.0009554037,0.2672346,0.0006032464,0.07697226,0.004823247],"study_design_scores_gemma":[0.01172487,0.007372322,0.9168062,0.0003709592,0.003555894,0.008053835,0.000198386,0.002203552,0.0003475765,0.006165884,0.04206099,0.001139562],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8700092,0.002976956,0.0003742873,0.08052035,0.04440675,0.00122841,0.0003901891,0.00006198659,0.00003185203],"genre_scores_gemma":[0.9659528,0.001887704,0.001733397,0.01317319,0.01650754,0.0001034386,0.00007795602,0.0002783236,0.0002856331],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2922176,"threshold_uncertainty_score":0.9994771,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03947821726744619,"score_gpt":0.3293000405608012,"score_spread":0.289821823293355,"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."}}