{"id":"W4415388704","doi":"10.1016/j.gendis.2025.101885","title":"Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy","year":2025,"lang":"en","type":"article","venue":"Genes & Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec","funders":"Jain Foundation","keywords":"Mutation; Point mutation; Mutation testing; Point (geometry); Gene","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":[0.0005469116,0.001283301,0.0005555241,0.002526541,0.0006618119,0.0008146422,0.001006568,0.001505318,0.005220626],"category_scores_gemma":[0.0004267525,0.0005016783,0.0007720304,0.0004860323,0.0009098207,0.000721482,0.0005634465,0.001813572,0.001817843],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000601727,"about_ca_system_score_gemma":0.0003230969,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001090208,"about_ca_topic_score_gemma":0.001351338,"domain_scores_codex":[0.9995065,0.00005638949,0.00009831286,0.0001341675,0.0001286824,0.00007602893],"domain_scores_gemma":[0.9993292,0.0001338914,0.0001954366,0.00006639493,0.00006891967,0.0002060175],"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":[0.000153914,0.00008047217,0.0001638728,0.00003308365,0.00002108413,0.0007620101,0.00003871082,0.00007112333,0.9969633,0.0007030421,0.0001742611,0.0008351157],"study_design_scores_gemma":[0.0002020323,0.0004654638,0.005905909,0.00004614808,0.0001872539,0.005648121,0.0001380334,0.002382966,0.9736717,0.0005523489,0.0107631,0.00003696966],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9713513,0.001738429,0.01680938,0.0009845286,0.0003277725,0.000252515,0.0043016,0.0006197452,0.003614792],"genre_scores_gemma":[0.9570928,0.001816848,0.01618605,0.0004048718,0.0000967946,0.0003811369,0.004581953,0.0004765242,0.01896311],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005220626,"threshold_uncertainty_score":0.0174647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007170970323435028,"score_gpt":0.2488527982340191,"score_spread":0.2416818279105841,"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."}}