{"id":"W2012721296","doi":"10.1136/jnnp-2013-306754","title":"Autosomal dominant eccentric core disease caused by a heterozygous mutation in the<i>MYH7</i>gene","year":2014,"lang":"en","type":"article","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Nautical Research Society","funders":"Assistance publique-Hôpitaux de Paris; Centre National de la Recherche Scientifique; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche","keywords":"MYH7; Missense mutation; Congenital myopathy; Compound heterozygosity; Biology; Genetics; Mutation; Central core disease; Myopathy; Gene; Pathology; Medicine; Muscle biopsy; RYR1; Biopsy","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":[0.0001841886,0.0008393339,0.0004001311,0.0004058559,0.0003740015,0.0001659861,0.0002757044,0.0006171553,0.002520923],"category_scores_gemma":[0.0004072404,0.0001366028,0.0002069019,0.0002693286,0.0004185813,0.0001602173,0.0003628423,0.0002649379,0.0003981191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002007958,"about_ca_system_score_gemma":0.000170713,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005408847,"about_ca_topic_score_gemma":0.0006502281,"domain_scores_codex":[0.9998597,0.00001766868,0.00001353817,0.00004335699,0.00003505809,0.00003059104],"domain_scores_gemma":[0.9997267,0.00008418838,0.00008171258,0.00001070814,0.00003092118,0.00006578238],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0006061486,0.0002523129,0.08374124,0.0002535895,0.0001260502,0.7008502,0.0005643776,0.000287249,0.1946384,0.0009531323,0.001944824,0.01578246],"study_design_scores_gemma":[0.0001262618,0.0007375556,0.1758718,0.0000691768,0.000148559,0.795032,0.0002247171,0.001078948,0.02183959,0.0004438863,0.004398695,0.00002867346],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994871,0.0004483483,0.001248434,0.00009672911,0.00003489076,0.00004274783,0.0001591299,0.0000675941,0.003031246],"genre_scores_gemma":[0.9979494,0.0001330213,0.0007571741,0.00008832844,0.00004426836,0.000009008993,0.0001138477,0.00001408552,0.0008908292],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002520923,"threshold_uncertainty_score":0.008433342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01241533557223598,"score_gpt":0.254128975391426,"score_spread":0.2417136398191901,"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."}}