{"id":"W2059892834","doi":"10.1159/000247258","title":"Hermansky-Pudlak Syndrome in a Swiss Population","year":2009,"lang":"en","type":"article","venue":"Dermatology","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Internal medicine; Hermansky–Pudlak syndrome; Population; Endocrinology; Biology; Glutathione reductase; Oculocutaneous albinism; Acrodermatitis enteropathica; Lipofuscin; Medicine; Pulmonary fibrosis; Pathology; Albinism; Glutathione peroxidase; Catalase; Fibrosis; Oxidative stress; Genetics; Micronutrient; Zinc deficiency (plant disorder)","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":[0.0000397675,0.00007435518,0.000103272,0.00005453508,0.00002273509,0.000006435443,0.0000713816,0.0001229513,0.00001487967],"category_scores_gemma":[0.00001322903,0.00007766203,0.00002667751,0.00006149043,0.00001205393,0.000003183734,0.00001204689,0.0000452006,0.00002425008],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008375921,"about_ca_system_score_gemma":0.000009270295,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001827175,"about_ca_topic_score_gemma":0.00004896613,"domain_scores_codex":[0.9994258,0.00005153177,0.0001589128,0.000165891,0.00004853976,0.0001492758],"domain_scores_gemma":[0.9997811,0.000003659078,0.00003688443,0.0001372847,0.00001128894,0.00002978139],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002334955,0.0003895874,0.3961172,0.0000563292,0.00004869932,0.0008796083,0.0003405267,0.0002552163,0.5676429,0.01059113,0.009394488,0.01405079],"study_design_scores_gemma":[0.001146355,0.0001781921,0.94529,0.00001268638,0.000007877367,0.002338588,0.00004236122,0.0002870248,0.04388743,0.002579221,0.003982733,0.0002475445],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971181,0.0001865756,0.0003350234,0.0008129231,0.0001022199,0.00009305451,0.000001451292,0.00001084133,0.001339864],"genre_scores_gemma":[0.9985937,0.00002396536,0.0002195366,0.000759765,0.00002549215,0.000006886801,0.0002457696,0.00000543739,0.0001193702],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5491728,"threshold_uncertainty_score":0.3166966,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005888016585421796,"score_gpt":0.253142108325441,"score_spread":0.2472540917400192,"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."}}