{"id":"W1131748360","doi":"","title":"Clinical Phenotypes Associated with Specific Genotypes in Leber Congenital Amaurosis (LCA).","year":2004,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Phenotype; Genotype; Amaurosis; Genetics; Medicine; Biology; Optometry; 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":[0.0005715696,0.0002332989,0.0002561659,0.00009432626,0.0001976222,0.00004166867,0.0003326466,0.0001841584,0.00002877763],"category_scores_gemma":[0.0003717482,0.0001917333,0.00006828917,0.000572699,0.003694354,0.00002426266,0.0001512578,0.0001778825,0.00004041662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007558978,"about_ca_system_score_gemma":0.0004388287,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001242652,"about_ca_topic_score_gemma":0.0001597335,"domain_scores_codex":[0.9979983,0.0001733203,0.0002923007,0.0007910925,0.0002530887,0.0004919006],"domain_scores_gemma":[0.99922,0.00003974092,0.0001350441,0.0002440951,0.0001562591,0.0002048399],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008988465,0.0006250994,0.6062452,0.000001869945,0.00009476027,0.0001932119,0.0001775634,0.0001287996,0.3918789,0.0001401571,0.00001353068,0.0004110943],"study_design_scores_gemma":[0.001993643,0.00190128,0.7847107,0.00002863606,0.00002391282,0.00005865205,0.0001348476,0.00001245514,0.2084968,0.002208625,0.00009336298,0.0003370924],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975441,0.000394099,0.00001270337,0.0001135039,0.0001366097,0.0002424594,0.00001201762,0.00001234842,0.00153221],"genre_scores_gemma":[0.9986383,0.00002637654,0.0009128514,0.0001673363,0.00004928796,0.00002495975,0.00004384958,0.00001997211,0.0001171206],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1833821,"threshold_uncertainty_score":0.999017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03057517529259543,"score_gpt":0.3253985508462857,"score_spread":0.2948233755536903,"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."}}