{"id":"W4403035922","doi":"10.1002/iub.2918","title":"Characterization of a novel heterozygous variant in the histidyl‐<scp>tRNA</scp> synthetase gene associated with <scp>Charcot–Marie–Tooth</scp> disease type <scp>2W</scp>","year":2024,"lang":"en","type":"article","venue":"IUBMB Life","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; Western University","funders":"Institute of Genetics; Ontario Ministry of Research and Innovation; Natural Sciences and Engineering Research Council of Canada; Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada","keywords":"Gene; Recombinant DNA; Tooth disease; Biology; Yeast; Saccharomyces cerevisiae; Histidine; Transfer RNA; Genetics; Molecular biology; Enzyme; Biochemistry; RNA","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":[0.0008164181,0.0006758925,0.0006907422,0.0003748047,0.0002486444,0.0003244158,0.001168848,0.0003058412,0.00003242476],"category_scores_gemma":[0.0311033,0.0004980238,0.000226508,0.002216924,0.0004831708,0.0005973434,0.0002656629,0.0009121448,0.0001761429],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001308681,"about_ca_system_score_gemma":0.0005137406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007132904,"about_ca_topic_score_gemma":0.00004073986,"domain_scores_codex":[0.9943076,0.0009139778,0.0009204457,0.001401534,0.001307955,0.001148486],"domain_scores_gemma":[0.9916325,0.006247957,0.0004341573,0.000950971,0.000161818,0.0005726065],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001075156,0.004752742,0.006095855,0.0004861759,0.0002375302,0.00685485,0.004838478,0.002376593,0.9616668,0.003117781,0.008724554,0.0007410744],"study_design_scores_gemma":[0.01182997,0.006425766,0.4532905,0.00192128,0.001822664,0.0008159201,0.001482643,0.1742439,0.1185088,0.002882647,0.2255768,0.00119915],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992704,0.0003587751,0.0009480108,0.0006936931,0.001046136,0.00126434,0.001577633,0.000421366,0.0009859954],"genre_scores_gemma":[0.9925071,0.000215911,0.00004588562,0.005497141,0.0002708033,0.0001762795,0.0002789705,0.0001448546,0.0008630413],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8431581,"threshold_uncertainty_score":0.9997472,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03517910441808104,"score_gpt":0.2435476762824298,"score_spread":0.2083685718643488,"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."}}