{"id":"W2964486007","doi":"10.1093/jnen/nlz056","title":"Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese","year":2019,"lang":"en","type":"article","venue":"Journal of Neuropathology & Experimental Neurology","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Paul's Hospital; Princess Margaret Cancer Centre","funders":"","keywords":"Nemaline myopathy; Myopathy; Founder effect; Genetics; Pathology; Allele; Haplotype; Medicine; Biology; 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":[0.0002193262,0.0006755669,0.0003779248,0.0008588376,0.0007778258,0.0002092287,0.0003346957,0.0004947687,0.002550568],"category_scores_gemma":[0.0006370649,0.0001608239,0.0004165773,0.0006955233,0.0005334492,0.0001285242,0.0003666069,0.0002591407,0.0004475905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003939168,"about_ca_system_score_gemma":0.0003799484,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007085389,"about_ca_topic_score_gemma":0.006850694,"domain_scores_codex":[0.999795,0.00002564059,0.00002926092,0.00005259904,0.00005116806,0.00004627302],"domain_scores_gemma":[0.9996785,0.00006220904,0.000108457,0.0000280656,0.00002571081,0.00009706074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006427642,0.0001708133,0.5331608,0.0001712246,0.0002088649,0.3069175,0.002348897,0.0003657726,0.1398386,0.000463319,0.0008434372,0.01486818],"study_design_scores_gemma":[0.00004193367,0.0002639127,0.8278209,0.00002870004,0.0001581984,0.1579534,0.0005878481,0.0005902071,0.01037029,0.0002019527,0.00193036,0.00005229452],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99891,0.0001569077,0.0001200516,0.00005652663,0.00001433789,0.00001394298,0.00008446889,0.00001088753,0.0006328989],"genre_scores_gemma":[0.9992993,0.00007299227,0.0001212886,0.00005280253,0.00002073177,0.000004484954,0.00006668961,0.000004694019,0.0003570119],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007085389,"threshold_uncertainty_score":0.01408827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01837161042688343,"score_gpt":0.3122231464568522,"score_spread":0.2938515360299688,"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."}}