{"id":"W2125922374","doi":"10.1136/bjo.2010.189076","title":"Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families","year":2011,"lang":"en","type":"article","venue":"British Journal of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Institutes of Health; Higher Education Commision, Pakistan; Higher Education Commission, Pakistan","keywords":"Genetics; Missense mutation; Nonsense mutation; Microsatellite; Locus (genetics); Allele; Point mutation; Medicine; Exon; Genetic linkage; Biology; Mutation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003292839,0.00142319,0.000415988,0.001420214,0.0009599394,0.0004030153,0.0003355916,0.0008616077,0.003162093],"category_scores_gemma":[0.001376922,0.0004123596,0.0002898131,0.0008731976,0.0008033346,0.0002439393,0.0005457368,0.0003832419,0.0003339463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003989591,"about_ca_system_score_gemma":0.0002807263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004822112,"about_ca_topic_score_gemma":0.004349292,"domain_scores_codex":[0.9996468,0.00005600754,0.00003377453,0.0001142053,0.0000787315,0.0000705641],"domain_scores_gemma":[0.9995157,0.0001570381,0.0001644202,0.00002241201,0.00003331828,0.0001071451],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001644574,0.0004589305,0.5728364,0.0002787454,0.0002668601,0.3075489,0.005241436,0.000509697,0.07954083,0.000683723,0.0009412342,0.03004859],"study_design_scores_gemma":[0.0002701697,0.0007317287,0.6910264,0.000112692,0.0002460932,0.2968259,0.001260951,0.0007829088,0.006555174,0.0002999592,0.00183156,0.00005641293],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988102,0.0002592886,0.0002198563,0.00005974835,0.000006202476,0.00001408518,0.00006968596,0.000009932033,0.0005510687],"genre_scores_gemma":[0.9992968,0.000124693,0.0002980752,0.00003518207,0.00001020009,0.000007317849,0.00004941238,0.000003967037,0.0001742543],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004822112,"threshold_uncertainty_score":0.01057822,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01865225156372813,"score_gpt":0.2435909327465228,"score_spread":0.2249386811827946,"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."}}