{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000131683,0.000842548,0.0005289977,0.0007250185,0.0004388309,0.0003553224,0.000452004,0.001260815,0.001707057],"category_scores_gemma":[0.0006053203,0.0002168602,0.0004205756,0.0004293089,0.0005634036,0.0001795804,0.0004626199,0.0005898729,0.0003680791],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000268895,"about_ca_system_score_gemma":0.0002528238,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001880756,"about_ca_topic_score_gemma":0.001695521,"domain_scores_codex":[0.9998179,0.00001458434,0.00001974688,0.00007312814,0.00004399326,0.00003066904],"domain_scores_gemma":[0.9996581,0.0001066365,0.00007641004,0.00001713914,0.00002939275,0.0001122911],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004064458,0.0001800447,0.01857117,0.00009985748,0.00007025168,0.7358355,0.0007554279,0.0003734182,0.2358463,0.0004470765,0.0003749941,0.007039425],"study_design_scores_gemma":[0.0001114006,0.001044255,0.10255,0.00004034955,0.0001207272,0.8371626,0.0004524772,0.002167936,0.05307103,0.0005399797,0.002672417,0.00006690322],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976239,0.0001960082,0.00095799,0.0001737666,0.0000364843,0.00003537472,0.0002520809,0.00003223667,0.0006921606],"genre_scores_gemma":[0.9981368,0.00008930334,0.0008052292,0.0000908286,0.00002335539,0.00001091427,0.0001707924,0.0000156936,0.0006571895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001880756,"threshold_uncertainty_score":0.005710661,"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."}}