{"id":"W2010397886","doi":"10.1203/pdr.0b013e3181462b86","title":"Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase","year":2007,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Metabolism, Diabetes, and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Muscular Dystrophy Association; Biotechnology and Biological Sciences Research Council; AstraZeneca; European Commission; Fund for Astrophysical Research","keywords":"Phosphorylase kinase; Internal medicine; Glycogen storage disease; Glycogen; Endocrinology; Mutation; Hypertrophic cardiomyopathy; Cardiomyopathy; Biology; Protein kinase A; Noonan syndrome; Ventricular hypertrophy; Kinase; Glycogen phosphorylase; Medicine; Gene; Left ventricular hypertrophy; Biochemistry; Heart failure","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001858853,0.0001185508,0.0001501534,0.0001999069,0.0001006265,0.0000316751,0.0002016484,0.0001027343,0.00001919934],"category_scores_gemma":[0.0002796359,0.00008509626,0.00003978051,0.0008964164,0.0001569671,0.00001002041,0.00008036671,0.0002203827,0.00000357328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001718115,"about_ca_system_score_gemma":0.0001937339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005946346,"about_ca_topic_score_gemma":0.0001393217,"domain_scores_codex":[0.9983276,0.0002318802,0.0002134308,0.000308976,0.0004972653,0.0004208256],"domain_scores_gemma":[0.9992009,0.00007910289,0.00007014671,0.0003222076,0.0002423228,0.00008532299],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002203068,0.0007768687,0.09417641,0.0005518536,0.00005792934,0.0001001192,0.002662175,0.00004440591,0.7483293,0.0002141559,0.001226006,0.1496577],"study_design_scores_gemma":[0.001417001,0.0008374093,0.03736224,0.00001799217,0.0000451313,0.000006372944,0.001197501,0.00001049138,0.9354135,0.00008509944,0.02331709,0.0002901544],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9362866,0.06261347,0.00006254949,0.00001300037,0.00002555109,0.0005934034,0.00003410179,0.00000382542,0.0003674921],"genre_scores_gemma":[0.9910722,0.008342033,0.0001588115,0.00001627306,0.0001817233,0.0001096171,0.00006148002,0.00001548091,0.00004238274],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1870842,"threshold_uncertainty_score":0.3470125,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02278693315182639,"score_gpt":0.3123211237291693,"score_spread":0.2895341905773429,"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."}}