{"id":"W2097658015","doi":"10.1177/0300060513477306","title":"Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family","year":2013,"lang":"en","type":"article","venue":"Journal of International Medical Research","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"Ministerio de Educación, Cultura y Deporte; National Science Foundation","keywords":"Exon; Genetics; Keratin; Mutation; Biology; Gene; Keratin 6A; Phenotype; Molecular biology; Intermediate filament; Cytoskeleton; Cell","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":[0.004652914,0.0001429345,0.0002256265,0.0003338947,0.00008302261,0.0001039162,0.001049472,0.0002552847,0.0002994522],"category_scores_gemma":[0.004638623,0.0000780506,0.00008805643,0.0002406788,0.0003129865,0.00003068207,0.0001603547,0.00102178,0.00002768537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008298316,"about_ca_system_score_gemma":0.0007878226,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002852139,"about_ca_topic_score_gemma":0.0005038499,"domain_scores_codex":[0.9956896,0.001165754,0.0006609449,0.0002711187,0.001808428,0.0004041514],"domain_scores_gemma":[0.9985237,0.0003240111,0.0001376946,0.0002147291,0.0005740511,0.0002258315],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.003004781,0.0009441693,0.05619816,0.00001712768,0.0001353786,0.002686688,0.0008239862,0.0000450478,0.9034874,0.0001268196,0.001734064,0.03079635],"study_design_scores_gemma":[0.0212719,0.01438118,0.7319618,0.0005723613,0.00002302819,0.01163153,0.005625914,0.03932579,0.1609244,0.002240261,0.01118894,0.0008529406],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951791,0.0002208385,0.0005309428,0.002797533,0.0002772693,0.0003109534,0.000005812534,0.000001547763,0.0006760501],"genre_scores_gemma":[0.996922,0.0004860268,0.000647194,0.0002983544,0.001116119,0.00004761742,0.00005557438,0.00001483133,0.0004123472],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7425631,"threshold_uncertainty_score":0.55532,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03315250037713059,"score_gpt":0.381230360252362,"score_spread":0.3480778598752314,"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."}}