{"id":"W4408607143","doi":"10.1016/j.gim.2025.101418","title":"Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Eye Institute; National Heart, Lung, and Blood Institute; University of California, San Diego; Union Nationale des Aveugles et Déficients Visuels; Retina France; Fondation Voir et Entendre; Centre National de la Recherche Scientifique; Alliance Nationale pour les Sciences de la Vie et de la Santé; Institut National de la Santé et de la Recherche Médicale; National Human Genome Research Institute; Agence Nationale de la Recherche; Ministère de l'Enseignement Supérieur et de la Recherche; Foundation Fighting Blindness; Broad Institute; Northwest Lions Foundation; Research to Prevent Blindness","keywords":"Retinitis pigmentosa; Isocitrate dehydrogenase; Protein subunit; Genetics; Gene; Biology; Mitochondrion; Molecular biology; Biochemistry; Enzyme","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":[],"consensus_categories":[],"category_scores_codex":[0.0004563026,0.0001300769,0.0002149894,0.0001066093,0.00005401822,0.000006202698,0.0002689405,0.0001142016,0.00001289876],"category_scores_gemma":[0.000373766,0.0001048482,0.00006124813,0.000241847,0.0002167023,0.000001979586,0.00006286558,0.00006518735,6.091638e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001313844,"about_ca_system_score_gemma":0.0001612519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006516759,"about_ca_topic_score_gemma":0.000122621,"domain_scores_codex":[0.9987472,0.00004510152,0.0006004028,0.0002482911,0.0001739599,0.0001850766],"domain_scores_gemma":[0.9991903,0.00005901192,0.0002388805,0.000300817,0.0001799158,0.0000310423],"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":[0.0002393183,0.00004080682,0.001638167,0.00008562886,0.00006305389,4.789721e-7,0.0002940172,0.0001112593,0.995523,0.0003802835,0.0006962984,0.0009276532],"study_design_scores_gemma":[0.00250335,0.0002631767,0.002835898,0.0001132773,0.00007749151,0.000002608165,0.0005223082,0.0004727745,0.9877708,0.001395415,0.003921554,0.0001213311],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821359,0.002493253,0.01266734,0.0007065991,0.0004052571,0.000595792,0.00003052445,0.000003410769,0.0009619464],"genre_scores_gemma":[0.9950511,0.002439294,0.001348943,0.0002009308,0.0001298925,0.0000695899,0.00021252,0.0000123685,0.000535291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0129153,"threshold_uncertainty_score":0.4275584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01460756241404298,"score_gpt":0.299581189459878,"score_spread":0.284973627045835,"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."}}