{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000144142,0.00123168,0.0004014206,0.000543764,0.0005995316,0.0002933463,0.0002902552,0.0006353705,0.00301147],"category_scores_gemma":[0.0003996316,0.0001783113,0.0003574295,0.0004321167,0.0005676468,0.0001627443,0.0003483191,0.000421326,0.0009043498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001782215,"about_ca_system_score_gemma":0.0001779342,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006129742,"about_ca_topic_score_gemma":0.0006418295,"domain_scores_codex":[0.9997936,0.00002853076,0.00003408913,0.0000655538,0.00003587245,0.000042359],"domain_scores_gemma":[0.9996938,0.00005528514,0.0001612363,0.00001895095,0.00002273548,0.00004800577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005712757,0.0001540227,0.06472552,0.000245128,0.00009261323,0.7462322,0.0003782008,0.0004207286,0.1724496,0.0008467966,0.001541857,0.01234222],"study_design_scores_gemma":[0.00006885588,0.0004549328,0.06987109,0.00005885833,0.0001150308,0.8986945,0.0002374569,0.0009290316,0.02494743,0.0003136543,0.004282325,0.00002687598],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931381,0.0009235781,0.001584624,0.0001963518,0.00004912827,0.00004177275,0.0003802905,0.0002182147,0.003467791],"genre_scores_gemma":[0.9977501,0.0002402229,0.0009085929,0.0001032436,0.00005492408,0.00001076595,0.000173477,0.00001894523,0.0007395821],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00301147,"threshold_uncertainty_score":0.01007438,"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."}}