{"id":"W2563186352","doi":"10.1038/nature20790","title":"XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia","year":2016,"lang":"en","type":"article","venue":"Nature","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":271,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; Children's Hospital of Eastern Ontario; University of Toronto; McGill University and Génome Québec Innovation Centre","funders":"National Institute of Neurological Disorders and Stroke; Biotechnology and Biological Sciences Research Council; National Cancer Institute; Medical Research Council; Cancer Research UK","keywords":"XRCC1; Ataxia; Cerebellar ataxia; DNA repair; Biology; Mutation; PARP1; Genetics; Poly ADP ribose polymerase; Neuroscience; Polymerase; Gene; Genotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003624337,0.001106421,0.0005981022,0.001525286,0.0006036265,0.0004199442,0.0006657696,0.001799158,0.00295772],"category_scores_gemma":[0.001129399,0.0005493428,0.0005536969,0.00108562,0.0006809806,0.0004781095,0.0004633808,0.000690006,0.0005890724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003448782,"about_ca_system_score_gemma":0.0002253998,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009068509,"about_ca_topic_score_gemma":0.0006735804,"domain_scores_codex":[0.9995433,0.00007787241,0.00009410888,0.0001439279,0.00007824463,0.00006246492],"domain_scores_gemma":[0.9988536,0.0002659248,0.0005897924,0.00007279666,0.00004809473,0.0001698],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00303298,0.0004098636,0.1871992,0.0002953428,0.0004980563,0.5376542,0.0005171513,0.000654885,0.2561598,0.00108714,0.001320561,0.01117071],"study_design_scores_gemma":[0.0001593918,0.0006542316,0.3935992,0.00004260157,0.0005077536,0.5684527,0.000204936,0.001621002,0.03086756,0.0008820982,0.002945115,0.00006339684],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953884,0.001468524,0.001123165,0.0002856232,0.00004921414,0.00002402267,0.0002078439,0.00008162206,0.001371601],"genre_scores_gemma":[0.9988884,0.0002361868,0.0003202639,0.00003825773,0.00005604693,0.000004148865,0.0001073524,0.000008608767,0.0003406394],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00295772,"threshold_uncertainty_score":0.009894609,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004098113182533536,"score_gpt":0.2195269875330812,"score_spread":0.2154288743505477,"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."}}