{"id":"W3158454174","doi":"10.1002/humu.24211","title":"New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder","year":2021,"lang":"en","type":"article","venue":"Human Mutation","topic":"Sirtuins and Resveratrol in Medicine","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of British Columbia; SickKids Foundation; University of Toronto; North York General Hospital; Mount Sinai Hospital","funders":"National Health and Medical Research Council; Medical Research Council; New South Wales Government; National Human Genome Research Institute; University of Toronto; Office of Health and Medical Research","keywords":"NAD+ kinase; Missense mutation; Biology; Frameshift mutation; Genetics; Complementation; Nicotinamide adenine dinucleotide; Kynurenine pathway; Phenotype; Congenital disorder; Enzyme; Gene; Biochemistry; Kynurenine; Tryptophan; Amino acid","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":[],"consensus_categories":[],"category_scores_codex":[0.00008624756,0.00008878176,0.0001607714,0.0000468276,0.0001329557,0.00001639707,0.00003384487,0.0000413413,0.0004495773],"category_scores_gemma":[0.00007156345,0.00005681243,0.00003830519,0.0001161735,0.0001052271,0.00004354287,0.00001975356,0.00009938149,0.00000481124],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001537708,"about_ca_system_score_gemma":0.00009391026,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002123718,"about_ca_topic_score_gemma":0.0003620522,"domain_scores_codex":[0.9993222,0.00003234211,0.0001619617,0.0001558106,0.000205814,0.0001219024],"domain_scores_gemma":[0.9995729,0.00007755823,0.00006275139,0.0001682939,0.00005726582,0.00006123815],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009434386,0.001147295,0.491454,0.001220558,0.0008270307,0.002548514,0.03730069,0.0002068147,0.1891411,0.0416866,0.006846614,0.2266773],"study_design_scores_gemma":[0.003980282,0.0007275735,0.9713331,0.0001089561,0.0004497658,0.001052832,0.006901294,0.0002073179,0.0107753,0.003312129,0.0009791786,0.0001722647],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875377,0.009034612,0.0008711357,0.0008294219,0.0001252081,0.0001793913,0.000002425938,0.00001526094,0.001404881],"genre_scores_gemma":[0.9978631,0.0001095325,0.0001933828,0.0001853706,0.0001836676,0.00000375068,0.00003718275,0.00001123935,0.001412764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4798791,"threshold_uncertainty_score":0.4922556,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02445762130745945,"score_gpt":0.2843236852059744,"score_spread":0.259866063898515,"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."}}