{"id":"W4225256919","doi":"10.14740/jocmr4709","title":"First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G&gt;C p. in Two Brothers","year":2022,"lang":"en","type":"article","venue":"Journal of Clinical Medicine Research","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Genetics; Mutation; Compound heterozygosity; Pediatrics; Gene; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.0004264041,0.00280821,0.002061817,0.002066202,0.002321789,0.001210538,0.001431442,0.004479505,0.004832495],"category_scores_gemma":[0.003321927,0.001528894,0.001088121,0.001035301,0.001988928,0.001466611,0.001988559,0.002549446,0.0009270232],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007843513,"about_ca_system_score_gemma":0.000800219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001605645,"about_ca_topic_score_gemma":0.001327314,"domain_scores_codex":[0.9989861,0.000098133,0.0001080474,0.0003712794,0.0001857994,0.0002507671],"domain_scores_gemma":[0.997762,0.0007011674,0.0004718384,0.0001440437,0.0001246266,0.000796312],"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":[0.00002555889,0.00002842869,0.001941553,0.00002068344,0.000008242051,0.9956032,0.0001882343,0.00003361874,0.001158662,0.0001575189,0.0001962105,0.0006380546],"study_design_scores_gemma":[0.00001330882,0.0000834428,0.004227418,0.000007000986,0.00001420543,0.9944686,0.00009468348,0.00005925468,0.0004660562,0.0001172015,0.000437263,0.00001163816],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9810581,0.002695258,0.003835691,0.003517743,0.0009746035,0.0001171651,0.0007838668,0.000342863,0.006674748],"genre_scores_gemma":[0.9931241,0.0007427497,0.001729752,0.0006926061,0.0006207776,0.00003330764,0.0001390707,0.00006721625,0.002850473],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004832495,"threshold_uncertainty_score":0.01616633,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1610818403878464,"score_gpt":0.4944566545696173,"score_spread":0.333374814181771,"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."}}