{"id":"W2112355644","doi":"10.1093/hmg/ddi151","title":"SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs","year":2005,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":145,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Biology; Exon; Genetics; Locus (genetics); Myopathy; Congenital myopathy; Gene; Allele; Mutation; Pathology; Muscle biopsy; Medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001783322,0.0004414942,0.0003385841,0.0006572598,0.0001782247,0.0002183484,0.0003097893,0.0008042457,0.001548773],"category_scores_gemma":[0.0003169006,0.0003209885,0.0003416683,0.0003545886,0.0004600666,0.0001192701,0.0002756329,0.0003823942,0.0005222552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002993263,"about_ca_system_score_gemma":0.0001529796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004190047,"about_ca_topic_score_gemma":0.0006193122,"domain_scores_codex":[0.9996862,0.00004738034,0.00004372014,0.00009863381,0.00008227821,0.00004180304],"domain_scores_gemma":[0.9996781,0.00008191364,0.0001259152,0.00002173348,0.00001295856,0.00007923503],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004671549,0.0001591157,0.008863426,0.0001008807,0.00007903686,0.01118821,0.0001485189,0.0003878651,0.9754273,0.0003003725,0.0001584199,0.002719548],"study_design_scores_gemma":[0.0004766566,0.003623696,0.4576755,0.0001184853,0.0005501151,0.1874546,0.0004618208,0.01043086,0.3296934,0.0007061398,0.008716331,0.00009230674],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986789,0.0001750614,0.000547033,0.00002694454,0.000008586922,0.00001283135,0.0001359277,0.00003907452,0.0003755936],"genre_scores_gemma":[0.9978685,0.0001530089,0.000640826,0.00003108271,0.00001228976,0.00001370184,0.0004088914,0.00002467863,0.0008471347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001548773,"threshold_uncertainty_score":0.005181134,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007028768019195468,"score_gpt":0.2141592648603158,"score_spread":0.2071304968411203,"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."}}