{"id":"W2556853014","doi":"10.1182/blood.v108.11.1283.1283","title":"Mouse Model for Shwachman-Diamond Syndrome with the R126T Disease Mutation Leads to Severe Growth and Developmental Deficiencies with Impairment of Hematopoiesis.","year":2006,"lang":"en","type":"article","venue":"Blood","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Biology; Haematopoiesis; Allele; Diamond–Blackfan anemia; Exocrine pancreatic insufficiency; Mutation; Bone marrow; Null allele; Phenotype; Internal medicine; Genetics; Endocrinology; Immunology; Stem cell; Gene; Medicine; Cystic fibrosis; RNA","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":[0.0004289786,0.00119113,0.000499908,0.001574736,0.000445734,0.0003890379,0.0006789908,0.001758808,0.006964339],"category_scores_gemma":[0.0001668102,0.0005145275,0.0008019721,0.0005345965,0.0006215068,0.0003886346,0.0004491407,0.001535686,0.002365407],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004052893,"about_ca_system_score_gemma":0.0002557883,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004831621,"about_ca_topic_score_gemma":0.0009044377,"domain_scores_codex":[0.9994578,0.00006753155,0.00008452086,0.0001565109,0.000164603,0.00006910863],"domain_scores_gemma":[0.9996264,0.00005045686,0.0001346952,0.00003698677,0.00002614793,0.0001253437],"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":[0.0001932736,0.0001457134,0.0002170809,0.00007790045,0.00001855189,0.00049468,0.00003417399,0.00008979576,0.9969543,0.000434831,0.0002478998,0.001091809],"study_design_scores_gemma":[0.0005002832,0.002149342,0.01241663,0.000102815,0.000201761,0.00875713,0.0001458642,0.003665925,0.9411688,0.0005198923,0.03031608,0.00005564],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9645116,0.002480751,0.01488012,0.0006241629,0.0003116071,0.0004262206,0.009537774,0.001042785,0.006184905],"genre_scores_gemma":[0.9211472,0.002964935,0.02050172,0.0003448632,0.00007174489,0.001093203,0.0139505,0.0003955584,0.03953022],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006964339,"threshold_uncertainty_score":0.02329797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004518694521432114,"score_gpt":0.1891339264284341,"score_spread":0.184615231907002,"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."}}