{"id":"W2059775717","doi":"10.1002/ejlt.200800196","title":"A novel mutation of the LDL receptor gene leading to familial hypercholesterolemia","year":2009,"lang":"en","type":"article","venue":"European Journal of Lipid Science and Technology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Fondation des Etoiles; National Natural Science Foundation of China; Stars Foundation","keywords":"Familial hypercholesterolemia; Proband; Genetics; Exon; Loss of heterozygosity; Mutation; LDL receptor; Biology; Compound heterozygosity; Allele; Gene; Lipoprotein; Endocrinology; Cholesterol","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002089118,0.00006094276,0.0001965706,0.0003252648,0.0001044913,0.00001233218,0.0002593128,0.00002458778,0.000001814228],"category_scores_gemma":[0.0004793797,0.00003758508,0.00005673062,0.0008728244,0.000271126,0.00008747586,0.00005612978,0.000222955,0.000004174506],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004401559,"about_ca_system_score_gemma":0.0001888916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001623433,"about_ca_topic_score_gemma":4.145922e-7,"domain_scores_codex":[0.9989734,0.00004134064,0.0002853975,0.0001253408,0.0004176594,0.0001568484],"domain_scores_gemma":[0.9991467,0.000006083733,0.0001529732,0.0002282812,0.0003701347,0.00009585011],"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":[0.00002429345,0.00002826628,0.0005742559,0.000005834153,0.000007157893,0.00001275978,0.000208315,0.000004896448,0.8047176,0.0001217116,0.00008052316,0.1942144],"study_design_scores_gemma":[0.004861266,0.00812634,0.3038765,0.0008949991,0.0001466929,0.01083975,0.001515836,0.00006255424,0.633986,0.0001583287,0.0352452,0.000286539],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890113,0.0001377894,0.001650268,0.008221436,0.0002130403,0.0001200966,7.147455e-7,0.000009852711,0.0006354564],"genre_scores_gemma":[0.9937348,0.00004003186,0.005212967,0.0007341674,0.0002415183,2.350254e-7,6.417505e-8,0.000004891042,0.00003130882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3033023,"threshold_uncertainty_score":0.1532675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01638080829534625,"score_gpt":0.2589667790891798,"score_spread":0.2425859707938336,"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."}}