{"id":"W4281698821","doi":"10.1016/j.ymgme.2022.05.005","title":"Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)","year":2022,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Deutsche Gesellschaft für Muskelkranke; AFM-Téléthon; European Regional Development Fund; French Muscular Dystrophy Association","keywords":"Dysferlin; Myofilament; Phenotype; Myopathy; Skeletal muscle; Biology; Muscle weakness; Sarcomere; Transmembrane domain; Missense mutation; Dystroglycan; Transmembrane protein; Myocyte; Gene; Internal medicine; Endocrinology; Cell biology; Genetics; Medicine; Anatomy; Laminin","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":[0.0002157424,0.001017039,0.0005275838,0.001039648,0.0006191544,0.0008154856,0.0005344493,0.001844763,0.001477943],"category_scores_gemma":[0.00144973,0.0003678076,0.0004741905,0.0004391661,0.0006565011,0.0005047765,0.0007290808,0.0007476937,0.0005413649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004390975,"about_ca_system_score_gemma":0.0002780935,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001288476,"about_ca_topic_score_gemma":0.001048005,"domain_scores_codex":[0.9997264,0.00001489061,0.0000302065,0.00008880485,0.00004930541,0.00009044891],"domain_scores_gemma":[0.9993617,0.0001499441,0.0001113054,0.00002317949,0.00006861892,0.0002853175],"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":[0.0004312118,0.0001880515,0.102104,0.00006391136,0.0000358879,0.8499696,0.001195466,0.0001720864,0.03964811,0.0004016955,0.000540174,0.00524981],"study_design_scores_gemma":[0.00003063561,0.0003172597,0.1589817,0.00003212317,0.00005246688,0.8292832,0.0007671937,0.0006457813,0.007623498,0.0003549408,0.001873398,0.00003777282],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966878,0.0004074729,0.0007231513,0.0003135043,0.00005015801,0.0000264177,0.0002233242,0.00002089304,0.001547275],"genre_scores_gemma":[0.9979371,0.000181587,0.0004415342,0.000189905,0.0000611186,0.000009939757,0.0001831355,0.00001475017,0.000981007],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001844763,"threshold_uncertainty_score":0.004944265,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01527286480380707,"score_gpt":0.2877675862178868,"score_spread":0.2724947214140798,"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."}}