{"id":"W1509468647","doi":"10.1111/j.1469-1809.2012.00711.x","title":"Familial Clustering Strongly Suggests that the Phenotypic Variation of the 8344 A&gt;G Lys Mitochondrial tRNA Mutation is Encoded in <i>cis</i>","year":2012,"lang":"en","type":"article","venue":"Annals of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"McGill University","keywords":"Heteroplasmy; Lipomatosis; Myoclonic epilepsy; Mitochondrial myopathy; Biology; Genetics; Mitochondrial DNA; Leigh disease; Myopathy; Mutation; Endocrinology; Internal medicine; Epilepsy; Medicine; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0002612422,0.0001434027,0.000170238,0.00004686544,0.00008936564,0.00001051036,0.0002766915,0.0001806699,0.00004021873],"category_scores_gemma":[0.00005326789,0.0001053888,0.0001301356,0.0001021843,0.0001143392,0.000007928237,0.0001180753,0.0001078027,0.000003262981],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006448758,"about_ca_system_score_gemma":0.00004495817,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004647972,"about_ca_topic_score_gemma":0.0002873951,"domain_scores_codex":[0.998765,0.0002197805,0.0003678892,0.0001952133,0.0002044974,0.0002476446],"domain_scores_gemma":[0.9991057,0.00002295431,0.0002690043,0.0004435535,0.0001171977,0.00004157842],"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":[0.0001692931,0.00009996672,0.004984496,0.00002023584,0.00003043353,2.590504e-7,0.001703169,0.0008623911,0.9894318,0.0001819123,0.001737046,0.0007789814],"study_design_scores_gemma":[0.001178295,0.0004629645,0.075222,0.00002546833,0.00004973617,0.00001134954,0.0002714646,0.0002651083,0.9173599,0.0003848694,0.004554891,0.0002139087],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941766,0.0006414197,0.002920323,0.0002179051,0.001153236,0.0003190535,0.00003071136,0.000004069907,0.000536644],"genre_scores_gemma":[0.9982379,0.0001241262,0.0003040954,0.0003920259,0.000601708,0.00001478713,0.00004216763,0.00001718135,0.000266019],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07207187,"threshold_uncertainty_score":0.4297631,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04037736822695204,"score_gpt":0.2934640754906701,"score_spread":0.253086707263718,"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."}}