{"id":"W2949340424","doi":"10.1002/chin.200511218","title":"Novel Mutations and Hot-Spots in Patients with Purine Nucleoside Phosphorylase Deficiency","year":2005,"lang":"en","type":"article","venue":"ChemInform","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Chemistry; Purine nucleoside phosphorylase; Purine; Nucleoside; Nucleic acid; Biochemistry; Enzyme","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000212956,0.001839856,0.0005434981,0.00247596,0.0009559423,0.000674276,0.0007353619,0.001967072,0.005086763],"category_scores_gemma":[0.001200159,0.0005316887,0.0005926106,0.001519005,0.0007975131,0.0004516229,0.0004266473,0.0005570735,0.000940416],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003506252,"about_ca_system_score_gemma":0.0002464623,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001253682,"about_ca_topic_score_gemma":0.001052073,"domain_scores_codex":[0.9996722,0.000030535,0.00004721234,0.000112681,0.00008127368,0.00005613253],"domain_scores_gemma":[0.9993466,0.0002825861,0.000132033,0.00002743732,0.0000473829,0.0001640281],"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":[0.002029557,0.000272701,0.1704169,0.0002465909,0.0003644344,0.7212567,0.001477426,0.00132077,0.08013672,0.001570082,0.003039463,0.01786858],"study_design_scores_gemma":[0.0001910053,0.0004257417,0.2391545,0.00007494483,0.0003750016,0.7398326,0.0004052285,0.001470496,0.01358775,0.001475219,0.00291334,0.00009421808],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948068,0.0006752959,0.0007913999,0.0003966358,0.00006838073,0.00003677125,0.0005465701,0.00007027062,0.002607851],"genre_scores_gemma":[0.9986225,0.0001542273,0.0003986477,0.00007094765,0.00006727856,0.000009717172,0.0001258383,0.00001398259,0.0005368068],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005086763,"threshold_uncertainty_score":0.01701689,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005276451368383219,"score_gpt":0.2196758115731842,"score_spread":0.2143993602048009,"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."}}