{"id":"W3159291854","doi":"10.4103/0028-3886.314579","title":"Clinical and Mutation Spectra of Cockayne Syndrome in India","year":2021,"lang":"en","type":"article","venue":"Neurology India","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Cockayne syndrome; Medicine; Proband; Medical genetics; Genetics; Mutation; Pediatrics; Dermatology; Biology; Nucleotide excision repair; DNA repair; Gene","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":[0.0001655277,0.00047208,0.000300125,0.002056754,0.0009513203,0.0004504697,0.0005256264,0.0004879713,0.002634431],"category_scores_gemma":[0.0007765705,0.0003167988,0.0002913273,0.001326373,0.0007972703,0.0001997802,0.000737482,0.0004606164,0.0003681751],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004751013,"about_ca_system_score_gemma":0.0007766004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007178309,"about_ca_topic_score_gemma":0.006459164,"domain_scores_codex":[0.9996058,0.00004227764,0.00004947831,0.0001315044,0.0000768387,0.00009408973],"domain_scores_gemma":[0.9993234,0.0001513861,0.0001580239,0.00004720585,0.0000950774,0.0002250764],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005014653,0.0002654163,0.7362538,0.0001305537,0.00006584207,0.2319903,0.002435039,0.0004894503,0.01465483,0.0007180425,0.00112356,0.01137167],"study_design_scores_gemma":[0.00003588325,0.0002681124,0.6317005,0.00002692901,0.00004048299,0.364163,0.001056693,0.0001773302,0.001263014,0.0002471938,0.0009908553,0.00003008555],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966017,0.000205768,0.00008873599,0.00007998415,0.000005251197,0.00002175799,0.0002703936,0.0000182234,0.002708149],"genre_scores_gemma":[0.9993319,0.0001016738,0.0001090323,0.00004796932,0.000005200005,0.000005862709,0.0001536219,0.000004012887,0.0002406501],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007178309,"threshold_uncertainty_score":0.01427305,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008408805000599089,"score_gpt":0.2665447411991099,"score_spread":0.2581359361985108,"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."}}