{"id":"W4411010661","doi":"10.1016/j.jcjo.2025.05.015","title":"A unique genotype–phenotype relationship between a novel BEST1 mutation and a case of severe autosomal recessive bestrophinopathy","year":2025,"lang":"en","type":"letter","venue":"Canadian Journal of Ophthalmology","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Phenotype; Genetics; Genotype; Mutation; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0006956948,0.003300502,0.00162917,0.002169767,0.001907078,0.001358519,0.001546338,0.006070714,0.002857868],"category_scores_gemma":[0.005905185,0.0009931864,0.001346394,0.00104518,0.002251953,0.001416745,0.001514318,0.00283733,0.0006059816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001490491,"about_ca_system_score_gemma":0.0007530162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00271667,"about_ca_topic_score_gemma":0.00265189,"domain_scores_codex":[0.9990865,0.0001394337,0.00009510791,0.0002516128,0.0001896864,0.0002376141],"domain_scores_gemma":[0.9957159,0.002438129,0.0005399985,0.0002306043,0.0002761031,0.0007993091],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003925891,0.00001568742,0.002314941,0.0000104985,0.000007487915,0.9959373,0.00006231084,0.00006393735,0.0007230963,0.0001629659,0.0003097465,0.0003527678],"study_design_scores_gemma":[0.00001656948,0.00007310025,0.005194744,0.000007987875,0.00001491142,0.9931355,0.00006682478,0.0005105024,0.0004085414,0.0002518946,0.0003060951,0.00001349915],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9674495,0.001340179,0.002787586,0.01145838,0.0006760926,0.000110572,0.0004338764,0.0002677554,0.01547596],"genre_scores_gemma":[0.9952741,0.000274559,0.001265847,0.0009501576,0.0007195998,0.00001781,0.00006445095,0.00005488531,0.001378653],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006070714,"threshold_uncertainty_score":0.01081431,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05874613264033535,"score_gpt":0.2950776601900594,"score_spread":0.236331527549724,"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."}}