{"id":"W2414198985","doi":"10.1038/gim.2015.205","title":"Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1","year":2016,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"National Center for Research Resources; National Institute of General Medical Sciences; National Eye Institute; Canadian Institutes of Health Research; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Retina Research Foundation; National Institutes of Health; Foundation Fighting Blindness","keywords":"Genetics; Gene; Mutation; Biology; Amaurosis; Medicine; Optometry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000184643,0.001021338,0.0005027518,0.001678134,0.000522762,0.0005245509,0.0006310786,0.001538645,0.004549285],"category_scores_gemma":[0.001073186,0.000255584,0.0004031171,0.0006331456,0.0008289386,0.000278856,0.0006786004,0.0007354232,0.0007258741],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003866242,"about_ca_system_score_gemma":0.0003555331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001060282,"about_ca_topic_score_gemma":0.0009129677,"domain_scores_codex":[0.999701,0.00003939209,0.00004233839,0.00007763301,0.00009616596,0.00004350948],"domain_scores_gemma":[0.9994104,0.0001924682,0.0001953487,0.00003147238,0.00003624601,0.0001340482],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008608733,0.0001272876,0.01592045,0.0001904017,0.0001022539,0.188154,0.0004198423,0.0008428721,0.7772216,0.001985072,0.0008045702,0.01337084],"study_design_scores_gemma":[0.0002698677,0.0005378002,0.1518823,0.0001062624,0.000352824,0.4064022,0.0004828674,0.004528583,0.4223943,0.00217859,0.01072682,0.0001376785],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933887,0.0008702652,0.00189614,0.0003375389,0.0001051393,0.00003231014,0.0005710447,0.0001666652,0.00263226],"genre_scores_gemma":[0.9979081,0.0001441724,0.001020053,0.00006512823,0.00003029903,0.00001330134,0.000148829,0.00002326488,0.0006467482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004549285,"threshold_uncertainty_score":0.01521891,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01672075087427619,"score_gpt":0.2729273407004467,"score_spread":0.2562065898261705,"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."}}