{"id":"W2014165638","doi":"10.1002/mus.23274","title":"Milder phenotype of congenital muscular dystrophy in a novel <i>POMT1</i> mutation","year":2011,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Congenital muscular dystrophy; Muscle biopsy; Phenotype; Mutation; Pathology; Muscular dystrophy; Hypotonia; Medicine; Exon; Biology; Genetics; Biopsy; Internal medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009222472,0.0001297792,0.0001489566,0.00005005875,0.00002818551,0.000003181607,0.0001446463,0.000147949,0.00006993784],"category_scores_gemma":[0.00003688996,0.0001303839,0.0001013171,0.0001054023,0.00009594918,0.000006570212,0.00006144011,0.00007650115,0.000009094163],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007370917,"about_ca_system_score_gemma":0.00005679027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003766477,"about_ca_topic_score_gemma":0.0001821927,"domain_scores_codex":[0.9991844,0.00004392885,0.0002186362,0.0002757432,0.00007564902,0.0002016686],"domain_scores_gemma":[0.9995375,0.000007160418,0.00008055293,0.0002663183,0.0000629767,0.00004546392],"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":[0.0002882781,0.0003660883,0.001915306,0.00002887966,0.0000584577,0.000008115169,0.0006133639,0.00007650613,0.9935952,0.0004614622,0.000102696,0.002485656],"study_design_scores_gemma":[0.006248229,0.001601526,0.603819,0.00003704882,0.00008890522,0.00001247237,0.0009949786,0.000330594,0.3813829,0.001591695,0.003101047,0.0007915922],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950469,0.0004037455,0.001005613,0.00001601348,0.0001082009,0.0001516036,0.00002121917,0.000008322917,0.003238344],"genre_scores_gemma":[0.9987946,0.00001327344,0.0008152543,0.0001323277,0.00005092524,0.0000232345,0.00009670894,0.00001749545,0.00005614259],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6122122,"threshold_uncertainty_score":0.53169,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01709339759295411,"score_gpt":0.2212404940566738,"score_spread":0.2041470964637196,"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."}}