{"id":"W1991570014","doi":"10.1002/humu.21241","title":"De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":152,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Fondation pour la Recherche sur Alzheimer; National Institute on Aging; National Institutes of Health; ALS Association","keywords":"TARDBP; Biology; Amyotrophic lateral sclerosis; Exon; Mutation; Genetics; Molecular biology; Gene; SOD1; Mutant; Pathology; Medicine","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":[0.0002095298,0.000665584,0.0003443827,0.0007711286,0.0005301741,0.0002387351,0.0003028368,0.0006963189,0.000844997],"category_scores_gemma":[0.0007437717,0.0003022539,0.0002370044,0.0003226819,0.0005455487,0.0001690184,0.0003679349,0.0003760735,0.0002750679],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000302633,"about_ca_system_score_gemma":0.000159112,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006728534,"about_ca_topic_score_gemma":0.0008151644,"domain_scores_codex":[0.9997713,0.00002630901,0.00003196655,0.00006395069,0.00007387459,0.00003266257],"domain_scores_gemma":[0.9996729,0.00008479873,0.000113432,0.00003039615,0.00002818754,0.00007024841],"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":[0.000764163,0.0003460458,0.1482772,0.0001154946,0.0001414599,0.6041937,0.001082516,0.0006076734,0.2295614,0.0006956912,0.0006195867,0.01359504],"study_design_scores_gemma":[0.0001099493,0.0005440322,0.2085467,0.00002038202,0.0001431181,0.7544239,0.0001306886,0.002296767,0.03084901,0.0004452057,0.002455715,0.00003453625],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989251,0.000170865,0.0004391285,0.00003971566,0.000006731323,0.000008199222,0.00003202001,0.00002158484,0.0003565056],"genre_scores_gemma":[0.9993882,0.0001036339,0.0002202243,0.00002567684,0.00001301708,0.000002850917,0.00004828846,0.000004196781,0.0001938077],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.000844997,"threshold_uncertainty_score":0.00282675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04649090988851046,"score_gpt":0.3294402302298238,"score_spread":0.2829493203413133,"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."}}