{"id":"W2111264372","doi":"10.1046/j.1468-1331.2000.00028.x","title":"Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country","year":2000,"lang":"en","type":"article","venue":"European Journal of Neurology","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"ALS Association","keywords":"Amyotrophic lateral sclerosis; Superoxide dismutase; Allele; Medicine; SOD1; Mutation; Compound heterozygosity; Genetics; Heterozygote advantage; Disease; Internal medicine; Biology; Gene; Oxidative stress","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":[],"consensus_categories":[],"category_scores_codex":[0.001098213,0.0001969026,0.0004106573,0.00008704618,0.0001808861,0.00004043647,0.0003654174,0.00004518911,0.0001029818],"category_scores_gemma":[0.0001550924,0.00008952845,0.00008227652,0.0002458133,0.001087319,0.000154731,0.00007263139,0.0008935488,0.00001511078],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002146036,"about_ca_system_score_gemma":0.00009610182,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006780892,"about_ca_topic_score_gemma":0.0000210694,"domain_scores_codex":[0.9968923,0.001397987,0.0006176933,0.0002358712,0.0005530945,0.0003030111],"domain_scores_gemma":[0.9985529,0.0002927403,0.0004256719,0.000315174,0.0002534648,0.0001600255],"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":[0.07780223,0.001020983,0.06265862,0.0003140778,0.001162806,0.0238447,0.02643253,0.005372401,0.7568812,0.0003433585,0.004727575,0.03943956],"study_design_scores_gemma":[0.004239752,0.007311694,0.9785271,0.0002195987,0.0002049163,0.006515966,0.000216368,0.0005455668,0.0008637395,0.00003997244,0.001175163,0.0001401225],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9847097,0.0002630096,0.00002401125,0.01437909,0.0001115735,0.0002599047,0.00001233065,0.00000757043,0.0002327888],"genre_scores_gemma":[0.9961846,0.0005994136,0.000112728,0.002638679,0.000267109,0.000002470918,0.000003101212,0.0000395345,0.0001523575],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9158685,"threshold_uncertainty_score":0.4006271,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02267609306614162,"score_gpt":0.2524700595438563,"score_spread":0.2297939664777146,"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."}}