{"id":"W2077197591","doi":"10.1007/s10038-003-0107-2","title":"CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism","year":2003,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Plant tissue culture and regeneration","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"Heart and Stroke Foundation of Canada","keywords":"Genetics; Cockayne syndrome; Nonsense mutation; Missense mutation; Nonsense; Allele; Biology; Compound heterozygosity; Heterozygote advantage; Mutation; Gene; DNA repair; Nucleotide excision repair","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002911362,0.002526237,0.0008879467,0.002628609,0.001416891,0.000528292,0.001344798,0.002842864,0.006154809],"category_scores_gemma":[0.001594039,0.0003778594,0.0007281958,0.001356975,0.001256362,0.0005353527,0.001007694,0.0009917902,0.0009030965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007388636,"about_ca_system_score_gemma":0.0004799123,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003732345,"about_ca_topic_score_gemma":0.0032534,"domain_scores_codex":[0.9995766,0.00005336099,0.00008354944,0.0001340182,0.00009954952,0.00005293746],"domain_scores_gemma":[0.9985616,0.0004195061,0.0004401393,0.00004777375,0.00008084715,0.0004502567],"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":[0.005165265,0.0005055435,0.0623913,0.0004962655,0.0006500588,0.5353548,0.001479789,0.001024171,0.3586361,0.003177308,0.002971217,0.02814813],"study_design_scores_gemma":[0.0006624344,0.0007835426,0.2366577,0.0001908102,0.0007560525,0.6866425,0.0006305935,0.003402387,0.05540712,0.001867419,0.0127284,0.000271156],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920046,0.001465556,0.001742211,0.0006387312,0.000282878,0.00006730224,0.0008612533,0.0001044013,0.002833167],"genre_scores_gemma":[0.9959549,0.0003018321,0.001508002,0.0001394889,0.0001540678,0.00003229354,0.0003228404,0.00003942886,0.001547083],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006154809,"threshold_uncertainty_score":0.02058989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02127325987688748,"score_gpt":0.2714373882419672,"score_spread":0.2501641283650797,"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."}}