{"id":"W4400983989","doi":"10.1177/25152564241261228","title":"Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering","year":2024,"lang":"en","type":"review","venue":"Contact","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Institute of Genetics; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research","keywords":"Tethering; Endoplasmic reticulum; Cell biology; Mutant; Mitochondrion; Chemistry; Biophysics; Biology; Biochemistry; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000225746,0.0009921594,0.001863176,0.0002427926,0.0002057611,0.0002204678,0.0004870163,0.0008867963,0.0002687812],"category_scores_gemma":[0.0005618207,0.0007740344,0.001366276,0.0002076761,0.00008178229,0.000006663945,0.0001316202,0.000796088,0.0004804336],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008780176,"about_ca_system_score_gemma":0.0009113287,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000263861,"about_ca_topic_score_gemma":0.00003402219,"domain_scores_codex":[0.996192,0.0005229581,0.0009038394,0.001415074,0.0003159578,0.000650163],"domain_scores_gemma":[0.9978656,0.0002060801,0.0004078326,0.001115309,0.00009421915,0.0003109851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004282648,0.0009876136,0.00004334487,0.03213576,0.004528171,0.002720338,0.0001430206,0.0001269768,0.2962546,0.002209794,0.01730568,0.639262],"study_design_scores_gemma":[0.001306029,0.001019412,0.00000180376,0.005299821,0.002104897,0.0001023608,0.00001029259,0.0001755045,0.004052205,0.000008608526,0.9850791,0.0008400116],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001470256,0.9887614,0.001474692,0.00008755108,0.004358992,0.002917093,0.0009461675,0.0001462819,0.001160757],"genre_scores_gemma":[0.00551156,0.9846808,0.0002324044,0.001000016,0.002929435,0.001233077,0.00185612,0.0003123926,0.00224416],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9677734,"threshold_uncertainty_score":0.9994711,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02277496150657864,"score_gpt":0.2861654670972621,"score_spread":0.2633905055906834,"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."}}