{"id":"W877519513","doi":"","title":"Phenotypic Characterization Of Autosomal Dominant Macular Dystrophy In A Family With Novel Inframe Deletion In GUCY2D","year":2012,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Phenotype; 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":[0.0002458906,0.001399407,0.0005324386,0.001233961,0.0006847577,0.0003486054,0.0005091053,0.0009167084,0.00184354],"category_scores_gemma":[0.0008421724,0.0002722008,0.0004705377,0.000524101,0.0007207697,0.000209269,0.0005888181,0.0005647428,0.0003540044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002146528,"about_ca_system_score_gemma":0.0002404415,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001570081,"about_ca_topic_score_gemma":0.001310837,"domain_scores_codex":[0.9997383,0.00003386277,0.0000360268,0.00008932378,0.00005614744,0.00004642966],"domain_scores_gemma":[0.9996139,0.00014827,0.00007495219,0.00002115556,0.00003231207,0.0001094112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003235768,0.0001111071,0.02661571,0.00005765639,0.00004535828,0.7392716,0.000842726,0.000384617,0.2284309,0.0004180801,0.0003172475,0.0031814],"study_design_scores_gemma":[0.00005844401,0.0002564266,0.1238755,0.00002486686,0.000157137,0.8417986,0.0003911894,0.001575344,0.02955972,0.0002153102,0.002048026,0.00003941857],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964591,0.000179776,0.001459272,0.0001720692,0.00002234479,0.00002043111,0.0002727727,0.0000452506,0.001369064],"genre_scores_gemma":[0.9980834,0.00009953912,0.0008825344,0.00006790918,0.00002126696,0.00001153474,0.0001721662,0.0000210488,0.0006407707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00184354,"threshold_uncertainty_score":0.006167233,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01687687781701752,"score_gpt":0.2785062891336822,"score_spread":0.2616294113166647,"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."}}