{"id":"W4414355257","doi":"10.1111/cge.70073","title":"Biallelic <scp> <i>TMEM126B</i> </scp> Variants as a Novel Cause of Kidney Failure—Implications for Mitochondrial Genetic Testing in Nephrology","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Sick Kids Foundation","keywords":"Genetic testing; Kidney; Mitochondrial DNA; Mitochondrion; Gene; Nephrology; Nephropathy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003700734,0.0002772835,0.0005094979,0.0001339482,0.0000792223,0.00002492477,0.0005989312,0.0005568127,0.000005113819],"category_scores_gemma":[0.008930801,0.0002962119,0.0002257447,0.000437793,0.0003171539,0.000002877738,0.0002763939,0.0001815554,0.00000684827],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004717046,"about_ca_system_score_gemma":0.0009950604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000247047,"about_ca_topic_score_gemma":0.0001032586,"domain_scores_codex":[0.9972451,0.0001431655,0.001205618,0.0007903364,0.000111287,0.0005045332],"domain_scores_gemma":[0.9976506,0.0005829021,0.000284643,0.0008955777,0.0003068129,0.0002794187],"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":[0.0001732277,0.001559622,0.1689247,0.0001886356,0.0004203994,0.000002304126,0.0001000678,0.001784601,0.7402462,0.001507672,0.06657428,0.01851832],"study_design_scores_gemma":[0.01077422,0.001497908,0.3691676,0.00009311464,0.0004668845,0.00002079497,0.0001197394,0.0008968185,0.02165197,0.008493599,0.5864131,0.0004041621],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9607534,0.001936789,0.03178991,0.00121146,0.001106745,0.001292175,0.0002361254,0.00002030951,0.001653105],"genre_scores_gemma":[0.7823337,0.002945809,0.1935799,0.01611821,0.00178251,0.0004120239,0.0004950373,0.0001400278,0.00219278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7185942,"threshold_uncertainty_score":0.999949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04519373241959512,"score_gpt":0.3531400205413712,"score_spread":0.3079462881217761,"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."}}