{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001736368,0.0005580008,0.000277468,0.0003067784,0.0001538123,0.0002689199,0.0001672536,0.0005969119,0.002580155],"category_scores_gemma":[0.0002218689,0.0001807304,0.0002839394,0.0002411603,0.0003747415,0.0001076496,0.0003251031,0.000397933,0.0007434552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001398877,"about_ca_system_score_gemma":0.0001314027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003534346,"about_ca_topic_score_gemma":0.0005076738,"domain_scores_codex":[0.9998719,0.00003355858,0.00002830221,0.00002544323,0.00002589912,0.0000150464],"domain_scores_gemma":[0.9998035,0.00004119016,0.00006416695,0.00001844581,0.0000106256,0.00006218259],"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":[0.0002663628,0.00004804533,0.00245116,0.00003258014,0.00002524564,0.004081118,0.00003248267,0.00008544594,0.9914089,0.000187883,0.000085787,0.001294908],"study_design_scores_gemma":[0.0003293347,0.001147998,0.103941,0.00008881231,0.0001556008,0.09999187,0.0003841219,0.004465515,0.7772701,0.0006633399,0.01150783,0.00005463423],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977831,0.000336492,0.0009586649,0.00009341463,0.00004020818,0.000009492664,0.0002786644,0.00005228111,0.0004476026],"genre_scores_gemma":[0.9976326,0.0002323528,0.0008142352,0.0000481988,0.000008874646,0.000009302908,0.0002791458,0.00003285137,0.0009423692],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002580155,"threshold_uncertainty_score":0.008631527,"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."}}