{"id":"W2142846383","doi":"10.1371/journal.pone.0060149","title":"A COL11A2 Mutation in Labrador Retrievers with Mild Disproportionate Dwarfism","year":2013,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Academy of Finland; European Commission; University of Bern","keywords":"Genetics; Biology; Penetrance; Mutation; Phenotype; Disease gene identification; Gene; Exome sequencing","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007463789,0.00007880738,0.00009324664,0.0000559621,0.00002980584,0.00001722854,0.00008007439,0.00006527211,0.0001852988],"category_scores_gemma":[0.0001499051,0.00007284429,0.00001573413,0.0001797376,0.00005732457,0.00000701275,0.00003881772,0.00008553085,0.00006857046],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002340648,"about_ca_system_score_gemma":0.00005264152,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004053795,"about_ca_topic_score_gemma":0.000506635,"domain_scores_codex":[0.9992379,0.00003747566,0.000101182,0.0002312812,0.0002110312,0.0001811381],"domain_scores_gemma":[0.9995931,0.00001093679,0.0000337276,0.0001468854,0.0001654361,0.00004987657],"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":[0.0002437931,0.001048342,0.06248212,0.00008972266,0.0001762092,0.00001587131,0.0001801279,0.00001144307,0.9316767,0.00005785118,0.0006686868,0.00334911],"study_design_scores_gemma":[0.002335406,0.000929737,0.3198656,0.00009949492,0.00002644627,0.000003840983,0.0004996663,0.0006330683,0.6745285,0.0003024079,0.000424054,0.0003518415],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976499,0.0001994811,0.0001110119,0.0007735792,0.000005551512,0.0005689855,0.00000711375,0.000009559313,0.0006748195],"genre_scores_gemma":[0.9973166,0.00004703004,0.0005445847,0.00009252203,0.00002569722,0.0001737931,0.0001111098,0.00001705772,0.00167161],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2573835,"threshold_uncertainty_score":0.2970504,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0240814609888502,"score_gpt":0.2436587218449497,"score_spread":0.2195772608560995,"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."}}