{"id":"W4291016618","doi":"10.3390/genes13081427","title":"An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health","keywords":"Labrador Retriever; Nonsense mutation; Medicine; Nonsense; Mutation; Nonsense-mediated decay; Genetics; Surgery; Biology; Missense mutation; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000218515,0.0008851274,0.0003563866,0.001313438,0.0003726208,0.0003188651,0.0005095376,0.001189219,0.002293585],"category_scores_gemma":[0.0003662001,0.0002450511,0.000404758,0.0002817358,0.000642361,0.0002181534,0.0005510818,0.0004631894,0.0006866087],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003614374,"about_ca_system_score_gemma":0.0001586662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009459939,"about_ca_topic_score_gemma":0.001421677,"domain_scores_codex":[0.9996555,0.00003638781,0.00005236373,0.0001261099,0.00007876703,0.00005093202],"domain_scores_gemma":[0.9996635,0.00005265455,0.0001649619,0.00002772919,0.00002053555,0.00007076557],"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":[0.0004951484,0.0001618255,0.01561191,0.0001487318,0.0001450854,0.09539331,0.000453293,0.0001545503,0.8813345,0.0005106138,0.0003320531,0.005259018],"study_design_scores_gemma":[0.0001741885,0.001202036,0.3482011,0.00009722282,0.0005284596,0.4613324,0.000492523,0.002234356,0.175207,0.0004378266,0.009985472,0.000107274],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969741,0.0004611746,0.0009814531,0.0001067229,0.00001827196,0.00001808513,0.0002983203,0.00008209718,0.001059782],"genre_scores_gemma":[0.9966002,0.0003754281,0.0007789443,0.0000854829,0.00002762564,0.00001455554,0.0004031402,0.00004899693,0.001665476],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002293585,"threshold_uncertainty_score":0.007672787,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01090252126082433,"score_gpt":0.2415616405239568,"score_spread":0.2306591192631325,"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."}}