{"id":"W4407923655","doi":"10.3390/genes16030269","title":"An RB1CC1 Missense Variant in Nova Scotia Duck Tolling Retrievers with Degenerative Encephalopathy","year":2025,"lang":"en","type":"article","venue":"Genes","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Nova scotia; Missense mutation; Biology; Genetics; Genotyping; Pathology; Genotype; Medicine; Gene; Phenotype","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":[0.0001352454,0.0005767802,0.0003870634,0.0007973303,0.0006062129,0.000333618,0.0003848213,0.0008140462,0.001484363],"category_scores_gemma":[0.0004736342,0.0001466322,0.0003157947,0.0004394714,0.0005298809,0.00008316611,0.0003168248,0.0003153596,0.00039724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009119419,"about_ca_system_score_gemma":0.0002295733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02320727,"about_ca_topic_score_gemma":0.0412191,"domain_scores_codex":[0.9998223,0.000009725786,0.00002141879,0.00005834447,0.00004481407,0.00004339446],"domain_scores_gemma":[0.9997043,0.00005656857,0.0001063867,0.00001538093,0.00003969046,0.00007766763],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00134948,0.0001927747,0.3388261,0.0002241898,0.0002392916,0.5136499,0.001987866,0.0007030388,0.1312321,0.0002450664,0.001227891,0.01012223],"study_design_scores_gemma":[0.00007116469,0.0003892299,0.8007125,0.00005123582,0.0001137399,0.1895966,0.0004586905,0.0006707729,0.005839941,0.00006444989,0.002004545,0.00002721461],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987987,0.000163635,0.00009625663,0.00004817913,0.00001028783,0.00001162626,0.0001891962,0.000009150411,0.000673034],"genre_scores_gemma":[0.9992418,0.00004496394,0.0001054504,0.00003530846,0.000006513935,0.000002848429,0.0001470613,0.000003681602,0.0004122833],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02320727,"threshold_uncertainty_score":0.04614437,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02475439241325365,"score_gpt":0.2821735891338557,"score_spread":0.257419196720602,"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."}}