{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004151929,0.0001678615,0.000729881,0.0003110529,0.0001101817,0.00001971425,0.0001620186,0.0001922791,0.0001748055],"category_scores_gemma":[0.0001549402,0.00009659756,0.00009983734,0.0002959381,0.0001910551,0.0001232856,0.00005649343,0.0004768605,0.00007791071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001898117,"about_ca_system_score_gemma":0.0009425458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001417438,"about_ca_topic_score_gemma":0.00000766992,"domain_scores_codex":[0.9983051,0.0002316305,0.0006258994,0.0001790238,0.000365161,0.000293228],"domain_scores_gemma":[0.998148,0.0005645348,0.0005877821,0.0002112868,0.0003361131,0.0001522345],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007148178,0.002425011,0.9113,0.002341026,0.002284255,0.0105857,0.007146476,0.0004670722,0.003878555,0.001580622,0.04167232,0.009170813],"study_design_scores_gemma":[0.03600415,0.03162008,0.700564,0.0002184196,0.004908952,0.1679084,0.02775834,0.00154179,0.001482588,0.0008537984,0.02614436,0.000995136],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882521,0.004541223,0.0001769738,0.005455667,0.000273877,0.0004469586,0.000001692038,0.00001366567,0.0008378482],"genre_scores_gemma":[0.9970846,0.001106595,0.0002137271,0.0003845913,0.0001266982,0.00001389933,0.000005375789,0.00002109728,0.001043383],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.210736,"threshold_uncertainty_score":0.3939134,"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."}}