{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006767434,0.00008046847,0.00005990797,0.00001732142,0.00003863881,0.00001071911,0.000045311,0.0006021342,0.00001880054],"category_scores_gemma":[0.0001316316,0.00005205919,0.0000167574,0.00004885957,0.00001861063,0.000006103394,0.00002203923,0.0001548029,0.000004105559],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000113759,"about_ca_system_score_gemma":0.00002245962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001851961,"about_ca_topic_score_gemma":0.00001120715,"domain_scores_codex":[0.9995033,0.00002523779,0.0000565664,0.0002097862,0.0001060524,0.00009910986],"domain_scores_gemma":[0.999677,0.0000135648,0.0000569729,0.0001343963,0.00008663494,0.00003143034],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005374546,0.00001813899,0.002963447,0.000003490555,0.00004804039,0.000003969977,0.00002753214,3.755443e-7,0.9884008,0.00009419126,0.002857411,0.005528922],"study_design_scores_gemma":[0.000707634,0.0001845431,0.0118284,0.00002988373,0.00001753595,0.00001954059,0.00001979891,0.0000164557,0.9720889,0.0002601607,0.01469301,0.0001340778],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980712,0.0002995861,0.0004550805,0.0006009883,0.00005378757,0.00009738823,0.0000243714,0.00001797466,0.0003796466],"genre_scores_gemma":[0.9970561,0.0000377044,0.0004530015,0.000693296,0.00006161561,0.000006064987,0.00008151559,0.00001429234,0.001596396],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01631178,"threshold_uncertainty_score":0.464421,"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."}}