{"id":"W2125001193","doi":"10.1016/j.ymgme.2013.08.009","title":"Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa","year":2013,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":71,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Radboud Universitair Medisch Centrum; Deutsche Forschungsgemeinschaft","keywords":"Cutis laxa; Genotype; Phenotype; Genetics; Dermatology; Biology; Medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001302285,0.0002329382,0.0002860159,0.0001044439,0.00007059975,0.00003664871,0.0002517313,0.0002089541,0.0002879397],"category_scores_gemma":[0.0001022015,0.0002314742,0.0001083198,0.0002051972,0.0001990932,0.000005005069,0.0002943699,0.0001443066,0.00003767491],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006492131,"about_ca_system_score_gemma":0.00008982412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002058764,"about_ca_topic_score_gemma":0.00002706556,"domain_scores_codex":[0.9984449,0.0001282876,0.0002981234,0.0004804516,0.0002453318,0.0004029677],"domain_scores_gemma":[0.9989992,0.0000117673,0.0001163284,0.0004837937,0.0002237647,0.0001651576],"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":[0.00002421763,0.00006410998,0.0007079654,0.0000259887,0.0001771931,0.00000649662,0.0001194674,0.00006313187,0.9751434,0.00139299,0.0003119532,0.02196313],"study_design_scores_gemma":[0.00157424,0.00032217,0.0840477,0.00001465213,0.0001018437,0.00002028229,0.0001108604,0.0004543868,0.8585227,0.00565869,0.0486557,0.0005168097],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9587512,0.03633449,0.001202278,0.0003396346,0.0001418935,0.0004531746,0.0000197174,0.00001256754,0.002745024],"genre_scores_gemma":[0.9953414,0.002477144,0.001186173,0.000113239,0.00006208201,0.00003762052,0.00006274703,0.00005208642,0.0006675444],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1166207,"threshold_uncertainty_score":0.9439244,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00609181520187547,"score_gpt":0.2442546195718295,"score_spread":0.238162804369954,"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."}}