{"id":"W3021195767","doi":"10.1093/hmg/ddaa081","title":"De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment","year":2020,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; Canadian Institutes of Health Research; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Howard Hughes Medical Institute","keywords":"Biology; Genetics; Phenotype; Hypotonia; Loss function; Mitochondrion; Translocase; Allele; Ataxia; Mutation; Gene; Chromosomal translocation; Neuroscience","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":[0.00007384364,0.0001639128,0.0001730508,0.00003299505,0.00006045316,0.00001311695,0.0002755486,0.000207253,0.0001275231],"category_scores_gemma":[0.00008855541,0.0001420923,0.0001699903,0.0001646657,0.0001352269,0.000001445006,0.000101074,0.000182086,0.000005989463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009376203,"about_ca_system_score_gemma":0.0001129562,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007092312,"about_ca_topic_score_gemma":0.00003526341,"domain_scores_codex":[0.9986572,0.0002323467,0.0003530313,0.0003564694,0.000150566,0.0002503635],"domain_scores_gemma":[0.9993713,0.000008813669,0.00009215045,0.0003548359,0.00005017602,0.0001227525],"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":[0.0001336602,0.0001006044,0.006434685,0.00001191877,0.00002430643,0.0000396333,0.0002107486,0.001442254,0.9905971,0.0001291018,0.0007538153,0.0001222138],"study_design_scores_gemma":[0.00412962,0.003333311,0.02789767,0.00001770255,0.0001385245,0.0001640515,0.0001174584,0.0005070118,0.92786,0.0004920223,0.03477412,0.0005684595],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930198,0.0002234523,0.005170082,0.0006502711,0.0002485613,0.000408756,0.00003306693,0.0000106815,0.0002353535],"genre_scores_gemma":[0.9939226,0.00003324706,0.003118307,0.002479288,0.0002331885,0.00003891011,0.00007990557,0.00002725242,0.00006728098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06273701,"threshold_uncertainty_score":0.5794355,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02098870140157533,"score_gpt":0.2620005754116622,"score_spread":0.2410118740100868,"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."}}