{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001391118,0.0009691262,0.0002128934,0.001258247,0.001050081,0.0003070072,0.0002146197,0.0003850658,0.002007259],"category_scores_gemma":[0.000449697,0.000214661,0.0003181721,0.0006024744,0.0005110184,0.0001863862,0.0005075113,0.0002325003,0.0002960878],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002999779,"about_ca_system_score_gemma":0.0002272019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0144324,"about_ca_topic_score_gemma":0.01265381,"domain_scores_codex":[0.9998401,0.00003080456,0.00001172358,0.00004567406,0.00003926026,0.00003245256],"domain_scores_gemma":[0.9998211,0.00003099724,0.00004371828,0.00002001977,0.00002792106,0.00005629235],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001796179,0.0005468673,0.8451937,0.00006283114,0.000238135,0.03664732,0.00550775,0.0002655263,0.09485391,0.0004146084,0.0007298264,0.01374316],"study_design_scores_gemma":[0.00006932664,0.0009748668,0.9748294,0.00001323489,0.00008087455,0.01999926,0.001288188,0.0004401707,0.001239326,0.00008958359,0.0009534924,0.00002234165],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996592,0.00002973055,0.00003960326,0.00001048218,0.000001304397,0.000005595983,0.00005644228,0.000003352475,0.0001942067],"genre_scores_gemma":[0.9992806,0.00007293336,0.00006908887,0.00001221551,0.000005896589,0.00000644496,0.0002125343,0.000002625266,0.0003377285],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0144324,"threshold_uncertainty_score":0.02869678,"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."}}