{"id":"W1202793260","doi":"","title":"The Phenotypes of Patients and Heterozygous Carriers With RDH12 Mutations Are Different From Those With RPE65 Mutations","year":2005,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"RPE65; Phenotype; Mutation; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.00006710531,0.0001442109,0.0001230638,0.00003622977,0.0004344955,0.00003619702,0.0002077552,0.00004485489,0.000005374461],"category_scores_gemma":[0.00009474803,0.00008496624,0.00002274212,0.0001507279,0.003900696,0.00001462507,0.00009502864,0.0000623594,0.000001279613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001824101,"about_ca_system_score_gemma":0.0001780213,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005221343,"about_ca_topic_score_gemma":0.00007603259,"domain_scores_codex":[0.9990402,0.00006241824,0.0001434328,0.0003611313,0.0001723149,0.0002204605],"domain_scores_gemma":[0.9992244,0.00005136596,0.0001642203,0.0001679359,0.0002264073,0.0001656958],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002070525,0.0002439121,0.582278,0.000007660548,0.0001368164,0.00001870783,0.001467319,0.0004089825,0.4139729,0.00007217805,0.00001844788,0.001168014],"study_design_scores_gemma":[0.0004877612,0.0009424078,0.7662,0.00001944104,0.00004837261,0.00002159054,0.0009395984,0.00009756476,0.2304719,0.0005342028,0.00006346752,0.0001736885],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999165,0.0002132815,0.000009481867,0.0001498211,0.00003541982,0.0001941929,0.0001308447,0.000004308003,0.00009767196],"genre_scores_gemma":[0.9991055,0.00001015993,0.0006312359,0.00007427209,0.00002817151,0.0000331491,0.00007262902,0.00001001924,0.00003483293],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1839221,"threshold_uncertainty_score":0.9988101,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01338542882704061,"score_gpt":0.2758936431766059,"score_spread":0.2625082143495652,"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."}}