{"id":"W2129215725","doi":"","title":"A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.","year":2011,"lang":"en","type":"article","venue":"PubMed","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Proband; Photophobia; Genetics; Electroretinography; Ophthalmology; Hypoplasia; Medicine; Biology; Internal medicine; Retinal; Mutation","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":[0.0002263588,0.001583527,0.0005366295,0.0009654881,0.001183204,0.000350649,0.0005537144,0.001382433,0.002606406],"category_scores_gemma":[0.00113097,0.0004030018,0.0004331289,0.0005582232,0.001016199,0.0002908189,0.0005305148,0.0006233584,0.0003491216],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003863425,"about_ca_system_score_gemma":0.0003572231,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002921526,"about_ca_topic_score_gemma":0.003107806,"domain_scores_codex":[0.9997223,0.00003129675,0.00002640676,0.0001051339,0.00006377106,0.00005104065],"domain_scores_gemma":[0.9993308,0.0002369562,0.0001546042,0.00003205636,0.00003197557,0.0002136448],"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":[0.0005645143,0.0002589597,0.1002244,0.0001332317,0.0001396673,0.832226,0.002106568,0.0002138198,0.0523601,0.000390811,0.0008340347,0.01054776],"study_design_scores_gemma":[0.0001142576,0.0004310983,0.1604557,0.00003998781,0.0001438393,0.8297982,0.000463923,0.0006863537,0.005104922,0.0002133211,0.00250688,0.00004146915],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984747,0.0002808665,0.0004011323,0.0001147558,0.00002551271,0.00001410819,0.00009299876,0.00002626472,0.0005697788],"genre_scores_gemma":[0.9986155,0.0001126741,0.0005005308,0.00007103706,0.00004169697,0.000008786863,0.00007981086,0.00001122768,0.0005588478],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002921526,"threshold_uncertainty_score":0.008719265,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02267019666930703,"score_gpt":0.2187286525750029,"score_spread":0.1960584559056959,"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."}}