{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001820719,0.001263516,0.0004809824,0.001389211,0.000627554,0.0003969135,0.0005896208,0.001243184,0.004312691],"category_scores_gemma":[0.001357866,0.0003866826,0.0004655196,0.0007287546,0.0009637896,0.0005376401,0.0009909718,0.0008509338,0.0009403939],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002526416,"about_ca_system_score_gemma":0.0002696128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009027162,"about_ca_topic_score_gemma":0.001709414,"domain_scores_codex":[0.9996295,0.00004064517,0.0000348487,0.0001224234,0.00007643212,0.00009629196],"domain_scores_gemma":[0.9994732,0.0001328004,0.00009335474,0.00008158752,0.00006131515,0.0001576576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000146707,0.0001636495,0.04038809,0.0001287824,0.00004228526,0.9039019,0.0004117283,0.000443233,0.01764173,0.001877584,0.00274118,0.03211308],"study_design_scores_gemma":[0.0000161761,0.00005134536,0.01330154,0.00001604061,0.0000166307,0.9818085,0.00006442062,0.0001899196,0.0009629984,0.0004321893,0.003126254,0.00001412546],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9522082,0.004731007,0.01054934,0.001306287,0.0003583568,0.0003428526,0.0009308823,0.000470549,0.0291025],"genre_scores_gemma":[0.9902215,0.001389078,0.004656307,0.0004289642,0.0002440566,0.00006858585,0.0003647286,0.00004558492,0.002581172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004312691,"threshold_uncertainty_score":0.01442742,"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."}}