{"id":"W2150962542","doi":"10.1093/hmg/ddg121","title":"A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia","year":2003,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":141,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institut national de la recherche scientifique","keywords":"RYR1; Biology; Malignant hyperthermia; Missense mutation; Skeletal muscle; Congenital myopathy; Genetics; Mutation; Myopathy; Central core disease; Ryanodine receptor; Gene; Endocrinology; Internal medicine; Muscle biopsy; Pathology; Biopsy; Endoplasmic reticulum; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001871671,0.001121117,0.0004641117,0.0007174658,0.000335757,0.0001447272,0.0003327413,0.0009332067,0.001470743],"category_scores_gemma":[0.0006053007,0.0002485109,0.0003144715,0.0003360323,0.0006636546,0.0001525046,0.0004529014,0.0005020122,0.0004906494],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000172974,"about_ca_system_score_gemma":0.0001619832,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004382294,"about_ca_topic_score_gemma":0.0004774896,"domain_scores_codex":[0.9997699,0.00003650665,0.0000270421,0.00007796974,0.00006297055,0.0000256417],"domain_scores_gemma":[0.9995914,0.0001190198,0.0001334876,0.0000254599,0.00002186682,0.000108725],"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":[0.0006261396,0.0001689462,0.01852125,0.0001679926,0.0001465161,0.2194741,0.0003637956,0.0003731019,0.744976,0.0009337575,0.000877602,0.01337087],"study_design_scores_gemma":[0.0002062982,0.001870721,0.1957685,0.00006135795,0.0002293098,0.6815755,0.0001609638,0.002144824,0.1134844,0.0008100916,0.00361235,0.00007578922],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961038,0.0003850889,0.002146898,0.0001311813,0.00004690583,0.0000306523,0.0002307324,0.000106002,0.0008187882],"genre_scores_gemma":[0.9975025,0.0001759327,0.001366765,0.00008457396,0.00004498767,0.00001296064,0.0001772406,0.00002760976,0.0006075711],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001470743,"threshold_uncertainty_score":0.004920125,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01659534154923382,"score_gpt":0.2498485316503696,"score_spread":0.2332531901011358,"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."}}