{"id":"W3190477891","doi":"10.1007/s10048-021-00658-1","title":"A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Medical Research Council; Canadian Institutes of Health Research; Council of Scientific and Industrial Research, India; Ataxia UK; Wellcome Trust","keywords":"Limb-girdle muscular dystrophy; Muscular dystrophy; Congenital myasthenic syndrome; Medicine; Proximal muscle weakness; Hypoplasia; Compound heterozygosity; Repetitive nerve stimulation; Muscle biopsy; Anatomy; Internal medicine; Mutation; Genetics; Biology; Biopsy; Myasthenia gravis","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":[0.00009904094,0.001037809,0.0002452135,0.0007143102,0.001021601,0.0003608638,0.0004397978,0.0006862424,0.002353293],"category_scores_gemma":[0.000632635,0.0002549376,0.0003491429,0.0006509576,0.0008396407,0.0001704248,0.0004147419,0.0005461192,0.0003668999],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003028925,"about_ca_system_score_gemma":0.0004548359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007903825,"about_ca_topic_score_gemma":0.00776231,"domain_scores_codex":[0.999833,0.0000212776,0.00002224856,0.00005166463,0.00003347897,0.00003830849],"domain_scores_gemma":[0.9997773,0.00004966078,0.00004554596,0.00001263637,0.00001406285,0.000100888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007315302,0.0002494924,0.2762358,0.0001631777,0.0001038922,0.5965559,0.003067238,0.000600612,0.1052366,0.0009434574,0.001805744,0.01430653],"study_design_scores_gemma":[0.0001100239,0.0004270554,0.5174036,0.00006030685,0.0001693263,0.4714949,0.001326838,0.0005754608,0.005065625,0.0005849231,0.002714845,0.00006703097],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971201,0.0001260088,0.0002021431,0.0001781628,0.00002298041,0.0000294024,0.0001909617,0.00003437571,0.002095893],"genre_scores_gemma":[0.9991338,0.00008444449,0.0002039603,0.00007139478,0.0000221683,0.000007914187,0.00007592154,0.000005948302,0.0003944235],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007903825,"threshold_uncertainty_score":0.0157156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0149741005772809,"score_gpt":0.2339776625087642,"score_spread":0.2190035619314833,"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."}}