{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003972949,0.001133365,0.001169438,0.001222572,0.0005989576,0.0005731335,0.0003545272,0.001011957,0.004960432],"category_scores_gemma":[0.002215522,0.0002943082,0.0006831673,0.000655806,0.0007593995,0.0006727849,0.0006675501,0.0004553483,0.0008714778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001359024,"about_ca_system_score_gemma":0.0001925215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008892145,"about_ca_topic_score_gemma":0.0007565536,"domain_scores_codex":[0.999572,0.00006410805,0.0000704476,0.00009433389,0.00009138847,0.0001077748],"domain_scores_gemma":[0.9990097,0.0003749547,0.0002350295,0.00008620555,0.00006436387,0.000229656],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.009536058,0.0006517912,0.4866689,0.0003216391,0.0005812663,0.1131148,0.004971931,0.0005734291,0.3250108,0.002704548,0.002088992,0.05377586],"study_design_scores_gemma":[0.0002017008,0.001002349,0.7825974,0.00004708024,0.0003100003,0.2020705,0.001355977,0.0004571356,0.008960122,0.001065285,0.001841767,0.00009059156],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965018,0.0002155473,0.0002897681,0.00007320353,0.0000161194,0.00001252381,0.0002806885,0.00002744517,0.002582911],"genre_scores_gemma":[0.9983088,0.0001444478,0.0002007396,0.00006343143,0.00002367178,0.00001286348,0.0003678187,0.00002826378,0.0008500944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004960432,"threshold_uncertainty_score":0.01659423,"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."}}