{"id":"W1468030863","doi":"","title":"Analysis of Developmental Genes in LCA Patients with CRX Mutations and Genotype-Phenotype Correlation","year":2002,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"DNA and Nucleic Acid Chemistry","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Phenotype; Genotype; Gene; Genetics; Correlation; Genotype-phenotype distinction; Biology","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":[0.0002806856,0.000674213,0.0005672546,0.0027392,0.0006661602,0.0004746056,0.0003682814,0.0007830506,0.003085351],"category_scores_gemma":[0.001806232,0.0002669381,0.000411853,0.001063591,0.0005343721,0.0002298442,0.0002828058,0.0004086765,0.0004097938],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000333521,"about_ca_system_score_gemma":0.0002483987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002553709,"about_ca_topic_score_gemma":0.00140345,"domain_scores_codex":[0.9994843,0.00008070128,0.00006927715,0.0001509051,0.0001088888,0.0001059775],"domain_scores_gemma":[0.9990352,0.0005636907,0.0001292095,0.00004840897,0.00009920209,0.0001242981],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004306484,0.0004873867,0.695538,0.00009715151,0.0001639514,0.05466756,0.001429047,0.0006756781,0.2243622,0.0006007293,0.0003770382,0.01729474],"study_design_scores_gemma":[0.0001522264,0.0008421546,0.8921527,0.00002673868,0.0002001881,0.06621337,0.0006622736,0.00209324,0.03579853,0.0002750781,0.00154514,0.00003842054],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988524,0.0001262063,0.0002508117,0.00003357268,0.000004361147,0.00001341468,0.0001567165,0.00001262912,0.0005497668],"genre_scores_gemma":[0.999046,0.00004979136,0.0003674319,0.00003079416,0.000007038425,0.00001491128,0.0001626883,0.00001325115,0.0003081474],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003085351,"threshold_uncertainty_score":0.0103215,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01587477881633682,"score_gpt":0.2659881821818681,"score_spread":0.2501134033655313,"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."}}