{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003953313,0.001804354,0.0008882065,0.002491903,0.0006314745,0.0005060054,0.0004676917,0.0008621636,0.007619742],"category_scores_gemma":[0.001359234,0.0003135211,0.0005716084,0.0009523278,0.0008921156,0.000306171,0.0008196825,0.000443851,0.000782404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002532964,"about_ca_system_score_gemma":0.0003012005,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00104037,"about_ca_topic_score_gemma":0.0006021145,"domain_scores_codex":[0.9993382,0.0001259687,0.0000765972,0.000194705,0.000158453,0.0001060869],"domain_scores_gemma":[0.9991954,0.0003083423,0.0002174113,0.00003834486,0.00007403236,0.000166504],"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":[0.003797989,0.0005181531,0.1667752,0.0003057208,0.0003226027,0.3803394,0.001504239,0.001166086,0.41874,0.001875699,0.001053105,0.02360179],"study_design_scores_gemma":[0.0001830362,0.001022989,0.4506817,0.00008683862,0.000379129,0.5195307,0.0006277331,0.002067102,0.02210312,0.001005409,0.002218256,0.00009402863],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947277,0.0003151677,0.0009990575,0.000169851,0.00001496976,0.00004250335,0.0004558772,0.00007811966,0.003196801],"genre_scores_gemma":[0.9982748,0.0001362854,0.0005666802,0.00005061316,0.00001689199,0.00001307401,0.0002023544,0.00003907317,0.0007002741],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007619742,"threshold_uncertainty_score":0.02549058,"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."}}