{"id":"W4400303247","doi":"10.1080/13816810.2024.2362204","title":"Detailed phenotype and long-term follow-up of <i>RAB28-</i> associated cone-rod dystrophy","year":2024,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Foundation Fighting Blindness; Research to Prevent Blindness; F. M. Kirby Foundation","keywords":"Dystrophy; Phenotype; Term (time); Medicine; Cone (formal languages); Ophthalmology; Genetics; Biology; Pathology; Physics; Gene; Computer science","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.0003555999,0.0002958505,0.0003823342,0.000567943,0.0006181732,0.0003444546,0.0002384208,0.0004798973,0.000472349],"category_scores_gemma":[0.001133693,0.0001340622,0.0003910169,0.0003498868,0.0002474897,0.0003916574,0.0003516853,0.000515059,0.0003181596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003013326,"about_ca_system_score_gemma":0.0001755183,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002558338,"about_ca_topic_score_gemma":0.002140065,"domain_scores_codex":[0.9997779,0.00003189194,0.00003099525,0.00006558615,0.0000362461,0.00005746542],"domain_scores_gemma":[0.999427,0.00009814354,0.0001417261,0.00005822215,0.0001365829,0.0001383646],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009186477,0.0003185741,0.8932021,0.00005581238,0.0001290218,0.03480424,0.0007149252,0.0007530486,0.03816195,0.00008514032,0.000737356,0.03011926],"study_design_scores_gemma":[0.00002063013,0.001544806,0.9525478,0.00003076074,0.000137967,0.04066751,0.000219953,0.0004779483,0.002416408,0.0001046493,0.001798878,0.0000326303],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977503,0.0005452419,0.0003195771,0.00006107856,0.000007629698,0.0000166521,0.0003410228,0.00003196004,0.0009266072],"genre_scores_gemma":[0.9984583,0.0001852016,0.000209975,0.00006131935,0.00001177517,0.0000105645,0.0006567019,0.000008566755,0.0003976654],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002558338,"threshold_uncertainty_score":0.005086899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01465841952449456,"score_gpt":0.2546349238290956,"score_spread":0.239976504304601,"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."}}