{"id":"W2167666811","doi":"10.1186/1476-511x-6-23","title":"Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)","year":2007,"lang":"en","type":"article","venue":"Lipids in Health and Disease","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; Western University","funders":"Canadian Institutes of Health Research; Ontario Genomics; Ontario Genomics Institute; Genome Canada; Heart and Stroke Foundation of Canada","keywords":"Missense mutation; Hypertriglyceridemia; Biology; Genetics; Mutation; Internal medicine; Endocrinology; Hereditary spherocytosis; Gene; Medicine; Triglyceride; Cholesterol","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002204962,0.001339525,0.0002970661,0.0008336739,0.0007023829,0.0003085939,0.0003405197,0.0012419,0.002352259],"category_scores_gemma":[0.0007930358,0.0004140064,0.0004731076,0.0004393805,0.0007745118,0.0002391696,0.0006183691,0.0006670913,0.0003958012],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003424209,"about_ca_system_score_gemma":0.0002717874,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001400181,"about_ca_topic_score_gemma":0.001071065,"domain_scores_codex":[0.999666,0.000037998,0.00004673317,0.0001283574,0.00006763651,0.00005332832],"domain_scores_gemma":[0.9996976,0.00007333862,0.00008008699,0.00001543454,0.00001366048,0.0001198626],"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":[0.001233379,0.0005284365,0.1136396,0.0001664667,0.0002304795,0.6418426,0.001860725,0.0002382057,0.2280662,0.0005121972,0.0006660956,0.01101562],"study_design_scores_gemma":[0.0002744922,0.001345561,0.2314422,0.00006309926,0.0002179387,0.7392476,0.0004153659,0.0006041136,0.02474059,0.0002142307,0.00139019,0.00004466077],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998947,0.0001241655,0.0002831714,0.00006851538,0.00001290154,0.0000242227,0.00009950826,0.00002121965,0.0004192596],"genre_scores_gemma":[0.9990228,0.00008112816,0.0003515016,0.00006393238,0.00001534741,0.000009778474,0.0001123346,0.000009310472,0.0003338286],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002352259,"threshold_uncertainty_score":0.007869124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009062714298443202,"score_gpt":0.282361680072847,"score_spread":0.2732989657744038,"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."}}