{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001796912,0.001710688,0.0004465635,0.001338887,0.0005022661,0.000458694,0.0007028262,0.001233055,0.002869343],"category_scores_gemma":[0.000577292,0.0004648205,0.0004806183,0.0004999028,0.001510788,0.0003573252,0.001204237,0.001144886,0.0009038773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005868512,"about_ca_system_score_gemma":0.0005823977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001081881,"about_ca_topic_score_gemma":0.00163357,"domain_scores_codex":[0.9995968,0.00004383387,0.00004396768,0.00007902046,0.0001924837,0.00004391822],"domain_scores_gemma":[0.9993879,0.0001041222,0.0002574599,0.00002897216,0.00002956413,0.0001920575],"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":[0.001135216,0.0001814541,0.005118352,0.0002597506,0.0002847914,0.04201627,0.0002165856,0.0008022921,0.9304295,0.004673888,0.00243564,0.01244622],"study_design_scores_gemma":[0.0009305059,0.001029726,0.109558,0.0001395973,0.0007247963,0.1877072,0.000475342,0.005318318,0.6595706,0.006536165,0.02781414,0.0001955919],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9869292,0.001480993,0.004886426,0.0004994068,0.0002623253,0.00006223194,0.001154585,0.0005689454,0.004155755],"genre_scores_gemma":[0.9915825,0.0007706305,0.002598229,0.00009950512,0.00007392858,0.00002953515,0.0007674157,0.0001235603,0.003954831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002869343,"threshold_uncertainty_score":0.009598911,"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."}}