{"id":"W2147950333","doi":"10.3109/17482968.2011.600316","title":"Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (<i>SOD1</i>) causing familial amyotrophic lateral sclerosis in a large Polish family","year":2011,"lang":"en","type":"article","venue":"Amyotrophic Lateral Sclerosis","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Waterloo; Warszawski Uniwersytet Medyczny","keywords":"Amyotrophic lateral sclerosis; SOD1; Mutation; Genetics; Superoxide dismutase; Population; Biology; Haplotype; Dismutase; Phenotype; Gene mutation; Gene; Disease; Medicine; Allele; Pathology; Oxidative stress; Biochemistry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002528035,0.001328271,0.0005049991,0.0007503365,0.0007208881,0.000360648,0.0002990975,0.0005723957,0.001255571],"category_scores_gemma":[0.0007054298,0.000370552,0.00056706,0.0005057423,0.0007512624,0.0001967041,0.0007145903,0.0003850925,0.0005059482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002636638,"about_ca_system_score_gemma":0.0003020732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002547091,"about_ca_topic_score_gemma":0.002382342,"domain_scores_codex":[0.9998109,0.00003307399,0.00001968318,0.00007054217,0.00003736433,0.00002857782],"domain_scores_gemma":[0.9997562,0.00004939371,0.00008440889,0.00002730615,0.00001946295,0.00006335737],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001277764,0.0004837771,0.2607456,0.0002568649,0.0006376228,0.4904744,0.003517684,0.000432322,0.1975437,0.0008048812,0.002052995,0.0417724],"study_design_scores_gemma":[0.000201392,0.0009846878,0.3811366,0.00005949787,0.000595745,0.5950407,0.0006224772,0.0009823715,0.01438828,0.0004346351,0.005500577,0.00005297188],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981499,0.0002940248,0.0007701677,0.0001026408,0.000008535962,0.00002285621,0.00008188128,0.00002957365,0.0005403905],"genre_scores_gemma":[0.9977757,0.0004577392,0.0006971727,0.0001071449,0.00003366822,0.00001269035,0.0001713308,0.00002011887,0.0007243657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002547091,"threshold_uncertainty_score":0.005064547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06865036267816042,"score_gpt":0.2794455775189881,"score_spread":0.2107952148408277,"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."}}