{"id":"W1985988350","doi":"10.1073/pnas.0709312104","title":"An <i>Ryr1</i> <sup> <i>I4895T</i> </sup> mutation abolishes Ca <sup>2+</sup> release channel function and delays development in homozygous offspring of a mutant mouse line","year":2007,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Heart, Lung, and Blood Institute; University of Waterloo; Canadian Institutes of Health Research; National Institutes of Health; Università degli Studi di Siena; Muscular Dystrophy Association","keywords":"RYR1; Myogenesis; Ryanodine receptor; Congenital myopathy; Skeletal muscle; Biology; Central core disease; Cell biology; Mutant; Mutation; Myocyte; Molecular biology; Internal medicine; Endocrinology; Chemistry; Genetics; Endoplasmic reticulum; Muscle biopsy; Medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001935054,0.0007266264,0.000386875,0.0006425535,0.0002694638,0.0003619033,0.0007182237,0.0005726735,0.004818939],"category_scores_gemma":[0.000156981,0.0003750022,0.0004741207,0.0002309123,0.000514388,0.0002620529,0.0003963718,0.0008362688,0.002307608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000217727,"about_ca_system_score_gemma":0.0001558298,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004829735,"about_ca_topic_score_gemma":0.0008498774,"domain_scores_codex":[0.9997136,0.00003601069,0.00005034023,0.00008192279,0.00007375601,0.00004438554],"domain_scores_gemma":[0.9996614,0.00003786315,0.0001528693,0.0000464423,0.00001582886,0.00008555923],"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":[0.00004925476,0.00002655223,0.00008493497,0.00001663775,0.000004672333,0.0001288891,0.00001167543,0.00004256279,0.9986803,0.0001355812,0.00008438845,0.0007346255],"study_design_scores_gemma":[0.00006615718,0.0003954086,0.004566792,0.00002328685,0.00002742891,0.001516553,0.00003314881,0.000881997,0.9876986,0.00007664464,0.004700477,0.00001353297],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844036,0.0005550019,0.007187627,0.0001954854,0.00008091028,0.00007406004,0.002528896,0.000581797,0.004392753],"genre_scores_gemma":[0.9722425,0.000884158,0.009940509,0.0001472744,0.00004344828,0.00018608,0.004070889,0.0004461017,0.01203907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004818939,"threshold_uncertainty_score":0.01612097,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01843062601805605,"score_gpt":0.2602455092160297,"score_spread":0.2418148831979736,"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."}}