{"id":"W3047092738","doi":"10.1093/hmg/ddaa166","title":"SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization","year":2020,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Korea Centers for Disease Control and Prevention; Medical Research Council Canada; National Institute for Health and Care Research; Ulverscroft Foundation; Academy of Medical Sciences; Asan Institute for Life Sciences, Asan Medical Center","keywords":"Biology; Retinal; Retina; Achromatopsia; Foveal; Hypoplasia; PAX6; Retinal Disorder; Aniridia; Genetics; Nystagmus; Ophthalmology; Anatomy; Neuroscience; Gene; Medicine","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":[0.00009533688,0.0004573536,0.0001973665,0.0005891895,0.0002226568,0.0001441778,0.000116298,0.0002412289,0.001565548],"category_scores_gemma":[0.000297988,0.0001173794,0.0001870681,0.0002536033,0.00027475,0.0001118671,0.000262817,0.0001236186,0.0003418771],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001821374,"about_ca_system_score_gemma":0.0001036511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008531582,"about_ca_topic_score_gemma":0.001138116,"domain_scores_codex":[0.999841,0.00001774809,0.00001936768,0.00004638548,0.0000493065,0.00002625971],"domain_scores_gemma":[0.9998471,0.0000313244,0.00006790297,0.00001343309,0.00001311296,0.00002707738],"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":[0.0005171512,0.00007505796,0.2024492,0.0001379022,0.0001057584,0.04209186,0.0006229557,0.000313832,0.7212819,0.0003410351,0.000438767,0.03162452],"study_design_scores_gemma":[0.0000478121,0.0006761978,0.6371249,0.00003267923,0.0000979271,0.2470705,0.0003259802,0.001116253,0.1078377,0.0002236348,0.005424521,0.00002193444],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985903,0.000292712,0.0003580412,0.00001214663,0.000001663456,0.000006850866,0.0001687204,0.00002939385,0.0005402594],"genre_scores_gemma":[0.9990314,0.0001112315,0.0003770565,0.000008175693,0.000001719912,0.000004564161,0.0001165522,0.000005944608,0.0003432918],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001565548,"threshold_uncertainty_score":0.005237281,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01402853109543022,"score_gpt":0.2432225930234997,"score_spread":0.2291940619280695,"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."}}