{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008598999,0.0003347905,0.0002789896,0.0005101048,0.000258355,0.0002830439,0.0002797279,0.0006433462,0.0009536644],"category_scores_gemma":[0.0002289431,0.00009349887,0.0003488584,0.0002863557,0.0003315077,0.0001046065,0.0002107012,0.0004363814,0.0002544471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002506805,"about_ca_system_score_gemma":0.0002417232,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007345309,"about_ca_topic_score_gemma":0.0005869195,"domain_scores_codex":[0.9999429,0.000007282363,0.000004356455,0.00001777365,0.00001616289,0.00001144137],"domain_scores_gemma":[0.9998773,0.00003522108,0.00002084932,0.00000925812,0.000009840785,0.00004745977],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008687611,0.0000945303,0.02609243,0.0001007015,0.00004205235,0.06354493,0.0001794886,0.0003193103,0.8963224,0.001683016,0.0003401918,0.01041206],"study_design_scores_gemma":[0.0004013505,0.0007604783,0.2919565,0.00006731525,0.0003222616,0.1299329,0.0006405301,0.01036821,0.5480695,0.002968567,0.01445739,0.00005498357],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995201,0.0005782828,0.002616531,0.0003505427,0.00007387639,0.00002160808,0.0002586991,0.00004468096,0.0008547762],"genre_scores_gemma":[0.9964844,0.0002853991,0.001950457,0.00009979468,0.00002318711,0.00001123908,0.0003188166,0.000007443536,0.0008192862],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009536644,"threshold_uncertainty_score":0.003190339,"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."}}