{"id":"W2166367631","doi":"10.1242/dmm.002527","title":"An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy","year":2009,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":102,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; Wellcome Trust","keywords":"Biology; Mutation; Phenotype; Heterozygote advantage; Axon; Congenic; Peripheral nervous system; Loss function; Peripheral neuropathy; Atrophy; Genetics; Mutant; Internal medicine; Endocrinology; Central nervous system; Neuroscience; Gene; Allele; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001865337,0.000444757,0.0004443898,0.0001750185,0.0001985163,0.00009820168,0.0003544524,0.0001335793,0.00005610887],"category_scores_gemma":[0.0006890331,0.0004340337,0.0001094483,0.000271275,0.0001126732,0.0008775412,0.00007341977,0.0003102201,0.00000402863],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005523606,"about_ca_system_score_gemma":0.0001448702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000698367,"about_ca_topic_score_gemma":0.00001526018,"domain_scores_codex":[0.9967684,0.0004995061,0.0005086284,0.001044372,0.0005799355,0.0005991773],"domain_scores_gemma":[0.9985674,0.0001512831,0.0001795061,0.0005313665,0.00008664914,0.0004837842],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001062274,0.0005637672,0.00002675446,0.00003194577,0.000003957316,0.0003138365,0.001049442,0.1339495,0.8550708,0.006261955,0.000001074087,0.001664644],"study_design_scores_gemma":[0.00081369,0.0008918514,0.0003840883,0.00002306724,0.00003703407,0.000009147785,0.0001447863,0.9056174,0.06139321,0.03028427,7.087618e-7,0.0004007268],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900992,0.00008743429,0.008231211,0.0001370254,0.0001013224,0.000689283,0.0002997548,0.0001986813,0.00015611],"genre_scores_gemma":[0.9971155,0.00006168801,0.0009240254,0.001652832,0.00004235517,0.00004109632,0.00002391482,0.00006880793,0.00006977262],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7936776,"threshold_uncertainty_score":0.9998112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04205495640419601,"score_gpt":0.2666708646053253,"score_spread":0.2246159082011293,"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."}}