{"id":"W2156190275","doi":"10.1086/507318","title":"Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis","year":2006,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":676,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Genetics; Exon; Mutation; Gene; Biology; Allele; Blindness; RNA splicing; Splice site mutation; Point mutation; Medicine; RNA; Alternative splicing","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":[0.0001766021,0.0008435305,0.0003911979,0.001101462,0.0005475113,0.0003241128,0.0003697921,0.0009825886,0.002582906],"category_scores_gemma":[0.00157225,0.0002599477,0.0001677535,0.0008600402,0.0005930185,0.0003037413,0.0004915297,0.0006194451,0.0008591785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001762818,"about_ca_system_score_gemma":0.0001576102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005658471,"about_ca_topic_score_gemma":0.000513424,"domain_scores_codex":[0.9997099,0.00003893332,0.00003381295,0.00005561899,0.0001233321,0.00003832149],"domain_scores_gemma":[0.9992781,0.0002325661,0.0002442321,0.00003970034,0.00004819765,0.0001572173],"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":[0.001599939,0.0001621947,0.1135269,0.0002054486,0.0001440637,0.5070925,0.000657114,0.0005201205,0.3453657,0.001402979,0.003221103,0.0261019],"study_design_scores_gemma":[0.0001221136,0.0002605053,0.2888331,0.00002331237,0.0001332713,0.6630054,0.0003131582,0.001375813,0.04038293,0.001419093,0.004072725,0.00005867814],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995005,0.0007593816,0.001247186,0.0002694693,0.00008912006,0.00001636179,0.0004270927,0.00009679612,0.002089789],"genre_scores_gemma":[0.9983707,0.0002497906,0.0005881055,0.00003661476,0.00007609188,0.000004523024,0.0001819579,0.00001774089,0.0004745499],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002582906,"threshold_uncertainty_score":0.008640707,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01125680564929398,"score_gpt":0.2571851063299452,"score_spread":0.2459283006806512,"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."}}