{"id":"W4376107924","doi":"10.1080/13816810.2023.2204359","title":"Syndromic retinitis pigmentosa caused by biallelic <i>SCAPER</i> frameshift variant","year":2023,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Foundation Fighting Blindness","keywords":"Frameshift mutation; Retinitis pigmentosa; Proband; Fundus (uterus); Medicine; Compound heterozygosity; Retinal degeneration; Genetics; Electroretinography; Ophthalmology; Phenotype; Pathology; Retinal; Biology; Mutation; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001771228,0.0002822801,0.0002018964,0.00007250612,0.0001143052,0.00006250197,0.0003298441,0.0002656794,0.0002265828],"category_scores_gemma":[0.00005720279,0.0003005563,0.0001134832,0.0002549877,0.00009083284,0.000003188282,0.0002166998,0.0001219945,0.000523196],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001530219,"about_ca_system_score_gemma":0.0001184962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001519184,"about_ca_topic_score_gemma":0.000005442264,"domain_scores_codex":[0.998257,0.00006693021,0.0003209972,0.0005533274,0.0002675451,0.0005341813],"domain_scores_gemma":[0.9992081,0.00001798165,0.00008547499,0.0004736129,0.00005472272,0.0001600933],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001325812,0.0001617196,0.02270875,0.0000908826,0.0002045308,0.0003992406,0.0002650568,0.0001335451,0.8202748,0.00004819997,0.1528976,0.002683107],"study_design_scores_gemma":[0.004810262,0.00166511,0.1041786,0.0001454198,0.0001853942,0.0007139496,0.0008086464,0.0007122274,0.2477425,0.001277672,0.6345576,0.003202627],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905967,0.001666728,0.0001261634,0.0003498332,0.0003901109,0.0002685547,0.00007488851,0.00005940186,0.006467663],"genre_scores_gemma":[0.9895733,0.003318194,0.0004414946,0.0003585557,0.0001187639,0.00007335389,0.0008605717,0.00006634087,0.005189423],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5725323,"threshold_uncertainty_score":0.9999446,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01109534806731718,"score_gpt":0.2424404377652054,"score_spread":0.2313450896978882,"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."}}