{"id":"W2954937003","doi":"10.1097/mph.0000000000001522","title":"Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations","year":2019,"lang":"en","type":"article","venue":"Journal of Pediatric Hematology/Oncology","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Pediatric Oncology Group","funders":"","keywords":"Hemophagocytic lymphohistiocytosis; Pancytopenia; Oculocutaneous albinism; Medicine; Frameshift mutation; Mutation; Melanosome; Immunology; Phenotype; Missense mutation; Genetics; Gene; Biology; Pathology; Disease; Bone marrow","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":[0.0004736084,0.0018989,0.0008769192,0.001319455,0.001032401,0.0007630236,0.0008814344,0.002521459,0.005093957],"category_scores_gemma":[0.003263352,0.0007671721,0.00075177,0.0008082658,0.0009118328,0.001059564,0.001269171,0.001731453,0.0008658626],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005253674,"about_ca_system_score_gemma":0.0004236127,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001365755,"about_ca_topic_score_gemma":0.0009559382,"domain_scores_codex":[0.9993566,0.00008921359,0.00009299812,0.0002159234,0.0001289458,0.0001163136],"domain_scores_gemma":[0.9989119,0.0003169894,0.0002486999,0.00008304314,0.00007871264,0.0003606177],"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":[0.0001833606,0.0001529839,0.05089707,0.00009512768,0.00005589271,0.930287,0.002070549,0.0001238444,0.01016693,0.0006512233,0.0006944689,0.004621549],"study_design_scores_gemma":[0.00003559385,0.00009514179,0.0182896,0.00002233705,0.00002346842,0.9787813,0.0003366611,0.000125678,0.0009937962,0.0002093647,0.001067814,0.00001917617],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898268,0.001021001,0.001131149,0.0006831809,0.0001985023,0.0001045365,0.0003996063,0.00006378356,0.006571503],"genre_scores_gemma":[0.9964038,0.0004907605,0.0008504671,0.0004716055,0.000198931,0.00003804451,0.0002201943,0.00002744922,0.001298708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005093957,"threshold_uncertainty_score":0.01704103,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01819690069240142,"score_gpt":0.303567801690308,"score_spread":0.2853709009979066,"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."}}