{"id":"W2148560978","doi":"10.1001/archopht.120.10.1325","title":"Electroretinographic Abnormalities in Parents of Patients With Leber Congenital Amaurosis Who Have Heterozygous GUCY2D Mutations","year":2002,"lang":"en","type":"article","venue":"Archives of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"GUCY2D; Electroretinography; Flicker; Retinitis pigmentosa; Heterozygote advantage; Erg; Audiology; Ophthalmology; Compound heterozygosity; Genetics; Biology; Medicine; Mutation; Retinal; Gene; Genotype","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":[0.0002700401,0.0008310233,0.0003958436,0.001209673,0.000640328,0.000372669,0.0002973931,0.0008332165,0.001721386],"category_scores_gemma":[0.002682491,0.0003529823,0.0002709386,0.0004862301,0.0005489431,0.0003519561,0.000366573,0.000413178,0.0002149088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000336887,"about_ca_system_score_gemma":0.0001904738,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001230392,"about_ca_topic_score_gemma":0.001003417,"domain_scores_codex":[0.9996741,0.00006161967,0.00003769232,0.0001026555,0.00007708897,0.00004687531],"domain_scores_gemma":[0.9990945,0.0003880746,0.0002735635,0.00005551979,0.00006147849,0.0001268495],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005524909,0.0001264927,0.8071402,0.00003307413,0.0000497823,0.1735046,0.001438399,0.0002042496,0.01155218,0.0001011405,0.0002900376,0.005007361],"study_design_scores_gemma":[0.00004156039,0.0005213409,0.602125,0.00002343504,0.00008510884,0.3931174,0.0006235678,0.000486054,0.002299908,0.0001457767,0.0005044031,0.00002653842],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993758,0.000102566,0.0001141168,0.00003195214,0.000006269622,0.000005356038,0.00005079555,0.000009346968,0.0003037571],"genre_scores_gemma":[0.9996941,0.00005191337,0.0000951144,0.00003120997,0.000009020089,0.000004611894,0.00005690383,0.000003153785,0.00005390147],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001721386,"threshold_uncertainty_score":0.005758584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008138661873339894,"score_gpt":0.2157700170752911,"score_spread":0.2076313552019513,"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."}}