{"id":"W4324128917","doi":"10.15252/emmm.202216834","title":"Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress","year":2023,"lang":"en","type":"article","venue":"EMBO Molecular Medicine","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Shriners Hospitals for Children - Canada","funders":"Allgemeine Unfallversicherungsanstalt; University of Washington; Fred Hutchinson Cancer Research Center","keywords":"Osteogenesis imperfecta; Missense mutation; Cell biology; Type I collagen; Mutation; Golgi apparatus; Chemistry; Biology; Endocrinology; Endoplasmic reticulum; Genetics; Gene; Anatomy","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":[0.0003336424,0.0001448863,0.0001771594,0.0002437137,0.00004972868,0.00001168885,0.0001241807,0.000090915,0.00004411975],"category_scores_gemma":[0.0005674434,0.0001401021,0.00002954397,0.0004561313,0.0001338,0.000003782589,0.000108916,0.00007397235,0.000009768882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001840946,"about_ca_system_score_gemma":0.00005269187,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003398207,"about_ca_topic_score_gemma":0.0004438339,"domain_scores_codex":[0.9987497,0.0001435483,0.0001837062,0.0003848969,0.000247034,0.0002911346],"domain_scores_gemma":[0.9995219,0.00004468868,0.00003854078,0.000222815,0.00007029778,0.0001017885],"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":[0.0001020779,0.00006252828,0.006947165,0.00009434737,0.00007941318,0.0004760549,0.0008759393,0.000670361,0.9756045,0.00009396157,0.00130703,0.01368661],"study_design_scores_gemma":[0.01880543,0.003784324,0.3585778,0.00102226,0.0001777605,0.0002450766,0.01836918,0.01081679,0.5619233,0.001234049,0.02304959,0.001994362],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946139,0.002858034,0.000399068,0.001083139,0.0000465483,0.0003211297,0.000008167824,0.00002623326,0.0006437214],"genre_scores_gemma":[0.9985929,0.0004077401,0.00003677866,0.0002789535,0.00008198566,0.00004595856,0.0003346155,0.00002955324,0.0001914732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4136812,"threshold_uncertainty_score":0.5713198,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01560020491071301,"score_gpt":0.3126515683375403,"score_spread":0.2970513634268273,"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."}}