{"id":"W2144102202","doi":"10.1001/archopht.122.7.1029","title":"The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations","year":2004,"lang":"en","type":"article","venue":"Archives of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Universitair Ziekenhuis Gent; Institut National de la Santé et de la Recherche Médicale; Foundation Fighting Blindness; Directorate for Biological Sciences; Ögonfonden; Grousbeck Family Foundation; Moorfields Eye Hospital NHS Foundation Trust; Universiteit Gent; Johns Hopkins University; McGill University; Knights Templar Eye Foundation","keywords":"Maculopathy; Compound heterozygosity; Genetics; Phenotype; Medicine; Ophthalmology; Retinal; Erg; Proband; Biology; Retinopathy; Mutation; Gene; Endocrinology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001623133,0.0006247796,0.0003078951,0.0008379743,0.0005321235,0.0003171854,0.0001542564,0.0003904017,0.002157372],"category_scores_gemma":[0.001040467,0.000203748,0.000183736,0.0004739828,0.0003641595,0.0003120013,0.0002933935,0.0001883059,0.0003747186],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001897885,"about_ca_system_score_gemma":0.0001406207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006784772,"about_ca_topic_score_gemma":0.0007983099,"domain_scores_codex":[0.9998142,0.0000267971,0.00002697386,0.00004859988,0.00003979474,0.00004368605],"domain_scores_gemma":[0.9995931,0.0001134341,0.0001634442,0.00001656072,0.00002811394,0.00008533906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003114698,0.0000535814,0.9191898,0.00005397112,0.00004141074,0.03925187,0.0004426908,0.0001933409,0.0302535,0.00006414444,0.0004054862,0.009738641],"study_design_scores_gemma":[0.00004759513,0.0003017256,0.8353932,0.0000252805,0.00005748711,0.159712,0.0003635228,0.0003775786,0.002888946,0.00008787483,0.0007288603,0.00001592031],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994559,0.0001242751,0.00009847453,0.00002397289,0.000002357498,0.000004204596,0.00004675054,0.000009083114,0.0002349858],"genre_scores_gemma":[0.9996031,0.00005377801,0.0001583705,0.00001816193,0.00001276865,0.000004646987,0.00006680779,0.000003483228,0.00007894165],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002157372,"threshold_uncertainty_score":0.007217109,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00482650911784977,"score_gpt":0.2186853740446562,"score_spread":0.2138588649268065,"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."}}