{"id":"W1981684241","doi":"10.1111/j.1399-0004.2010.01519_1.x","title":"DNA repair deficiency in a newly identified neurological disease","year":2010,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Microcephaly; Genetics; DNA repair; Disease; Mutation; Biology; DNA; Medicine; Gene; Pathology","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":[0.0005868135,0.0009220795,0.001062517,0.0007650925,0.0008600103,0.0006874622,0.0008462262,0.01138263,0.002007769],"category_scores_gemma":[0.003964817,0.0003392324,0.0006497056,0.0004386287,0.001391297,0.001015575,0.0005711374,0.004487605,0.001055998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001338467,"about_ca_system_score_gemma":0.0005818903,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001466902,"about_ca_topic_score_gemma":0.001910984,"domain_scores_codex":[0.9996086,0.00007582792,0.00004771601,0.00008660687,0.00008641572,0.00009494938],"domain_scores_gemma":[0.9987215,0.0007082417,0.00009741282,0.00006663166,0.0001547514,0.000251355],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004153982,0.00008925988,0.007419684,0.0001358453,0.0000421545,0.9101658,0.0001553,0.0002919789,0.003846316,0.002754033,0.06073063,0.01395364],"study_design_scores_gemma":[0.0003899288,0.0002974144,0.01976998,0.000133271,0.00012057,0.9314433,0.0001589717,0.002405925,0.002240411,0.005331916,0.0376405,0.00006782755],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.3345511,0.0129266,0.005900349,0.5639159,0.02491024,0.0002224022,0.0006771086,0.0006034079,0.05629283],"genre_scores_gemma":[0.7957228,0.006742245,0.003322552,0.119283,0.05439544,0.000100324,0.0002938794,0.00008826463,0.02005159],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01138263,"threshold_uncertainty_score":0.009711325,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03464000301752605,"score_gpt":0.320236985337782,"score_spread":0.2855969823202559,"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."}}