{"id":"W2043321552","doi":"10.1038/ng1229","title":"Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)","year":2003,"lang":"en","type":"article","venue":"Nature Genetics","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":432,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"National Institute of Allergy and Infectious Diseases; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; Wellcome Trust; University of Oklahoma","keywords":"Hermansky–Pudlak syndrome; Biology; Lysosome; Biogenesis; Melanosome; Cell biology; Organelle; Organelle biogenesis; Mutant; Mutation; Golgi apparatus; Oculocutaneous albinism; Phenotype; Genetics; Gene; Endoplasmic reticulum; Biochemistry; Pulmonary fibrosis; Melanin; Pathology","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":[0.0001588125,0.0001810337,0.0002309232,0.00004253364,0.00005560986,0.000007447337,0.000294057,0.0005011269,0.0001072903],"category_scores_gemma":[0.0001602629,0.0001387614,0.0001097709,0.0003104138,0.000118767,0.000001724306,0.00007669195,0.0001583595,0.000007593642],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001165647,"about_ca_system_score_gemma":0.00009521856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003253995,"about_ca_topic_score_gemma":0.00005007381,"domain_scores_codex":[0.9986409,0.0001410118,0.0004546139,0.0003188829,0.0002650382,0.0001795624],"domain_scores_gemma":[0.9988354,0.00003083116,0.0002812531,0.0005979049,0.0002005894,0.00005396413],"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":[0.00009111028,0.00008401989,0.007193894,0.00001866318,0.0002031245,0.000004706439,0.0001472336,0.0001511093,0.9903562,0.00006904441,0.00157508,0.0001058371],"study_design_scores_gemma":[0.001070718,0.0001629267,0.03224206,0.00002793892,0.0001134237,0.00003098162,0.0001042609,0.00003910001,0.9584092,0.0001507851,0.007473027,0.0001755228],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948404,0.003000989,0.00001393051,0.0000645593,0.0005017809,0.0002205637,0.0003474698,0.0000065131,0.00100379],"genre_scores_gemma":[0.9974995,0.0004563683,0.00114514,0.0001078883,0.00004029739,0.000002214842,0.0003677838,0.00002779348,0.0003530351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03194692,"threshold_uncertainty_score":0.5658528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01241476409119673,"score_gpt":0.2499165764236725,"score_spread":0.2375018123324757,"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."}}