{"id":"W1808494187","doi":"10.1038/ejhg.2015.223","title":"A canine orthologue of the human GFAP c.716G&gt;A (p.Arg239His) variant causes Alexander disease in a Labrador retriever","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Biology; Labrador Retriever; Genetics; Phenotype; Missense mutation; Pathology; Gene; Medicine","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":[0.0005838271,0.0001567912,0.0001869334,0.00008462184,0.00006720537,0.00002481636,0.0004032409,0.00003704796,0.00005741537],"category_scores_gemma":[0.0001654826,0.0001161665,0.0001489299,0.0001278996,0.0001578031,0.000006500899,0.000165947,0.0001337945,0.000003751531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002210513,"about_ca_system_score_gemma":0.0002109932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006356569,"about_ca_topic_score_gemma":0.00007618833,"domain_scores_codex":[0.9983115,0.0004627631,0.0005769531,0.0001750341,0.0002955236,0.0001782599],"domain_scores_gemma":[0.9985889,0.000006051225,0.0004224721,0.0004226859,0.0002665548,0.000293307],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007711012,0.001017378,0.5465901,0.00008765713,0.0002312372,0.001428369,0.001003821,0.009812715,0.4086171,0.0005994289,0.02927674,0.0005643095],"study_design_scores_gemma":[0.00320721,0.0006255939,0.9755898,0.00007863128,0.0001053389,0.00007771358,0.000119212,0.00004281925,0.006689822,0.0001202141,0.01309576,0.000247958],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966369,0.001620163,0.0001391026,0.0001488521,0.0001339915,0.0001109008,0.0000209876,0.000003321109,0.001185776],"genre_scores_gemma":[0.9979058,0.00005006878,0.0001379163,0.0002598251,0.0002586346,6.072296e-7,0.00001708597,0.00003490913,0.00133516],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4289996,"threshold_uncertainty_score":0.4737132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02720705279924029,"score_gpt":0.2637839441843605,"score_spread":0.2365768913851202,"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."}}