{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002266164,0.0004594673,0.0004380923,0.000747386,0.0004977002,0.0002296019,0.0002419335,0.0003609847,0.004078803],"category_scores_gemma":[0.0007053189,0.0001251282,0.0002944329,0.0007440771,0.000597811,0.0002066899,0.000321435,0.0002959822,0.0005781077],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001493677,"about_ca_system_score_gemma":0.0001421732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006332962,"about_ca_topic_score_gemma":0.0008305566,"domain_scores_codex":[0.9997105,0.00006538041,0.00003798368,0.0001102126,0.0000482734,0.00002762304],"domain_scores_gemma":[0.9989183,0.0002816419,0.0004965548,0.0001143277,0.00007365223,0.0001155292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001807555,0.00006593121,0.8922689,0.0001057037,0.0003215442,0.03139433,0.0006074476,0.0003570743,0.0594983,0.000539671,0.0005130631,0.01414716],"study_design_scores_gemma":[0.00001155384,0.0002213438,0.8765326,0.00002968523,0.0001252745,0.1155033,0.0005397312,0.000266401,0.004138123,0.000810401,0.001799993,0.00002163326],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968793,0.0003529474,0.0008427504,0.0001216691,0.000009362558,0.00001100823,0.0001430576,0.00003402674,0.00160587],"genre_scores_gemma":[0.9989703,0.0001682796,0.0004050207,0.00003415311,0.00001793122,0.000003735419,0.0001267959,0.000007843574,0.0002659064],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004078803,"threshold_uncertainty_score":0.01364499,"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."}}