{"id":"W2115599733","doi":"10.1093/brain/awq108","title":"Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy","year":2010,"lang":"en","type":"article","venue":"Brain","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":78,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Genomics; University of Toronto; Ontario Institute for Cancer Research","funders":"National Center for Complementary and Integrative Health; Muscular Dystrophy UK","keywords":"Myopathy; Biology; Muscle atrophy; Pathology; Atrophy; Internal medicine; Medicine; Genetics","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":[0.0001792052,0.001094581,0.0004320905,0.0006842581,0.0004192509,0.0002373366,0.0003807754,0.0008535584,0.002162491],"category_scores_gemma":[0.0005218051,0.0003208545,0.0003359308,0.0004318085,0.0005448018,0.0001868759,0.0004867361,0.0003816265,0.0004579973],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002712211,"about_ca_system_score_gemma":0.0001956036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001076661,"about_ca_topic_score_gemma":0.00125481,"domain_scores_codex":[0.9998435,0.00002395001,0.00001667612,0.00004981206,0.00003555856,0.000030586],"domain_scores_gemma":[0.9997329,0.00007900863,0.00007616076,0.00001515261,0.00001658523,0.00008020524],"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":[0.0007821149,0.0003829468,0.09630505,0.0002640544,0.000293997,0.6919567,0.000976559,0.0004257706,0.1964697,0.0007283069,0.001516532,0.009898326],"study_design_scores_gemma":[0.0001991393,0.0008571295,0.4916079,0.00006935551,0.0002606507,0.4829713,0.0002806778,0.0009965554,0.01711062,0.0003809862,0.005195152,0.00007051513],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981001,0.0002681477,0.0005211974,0.00009561102,0.00001593011,0.00002749706,0.000182728,0.00004307233,0.0007457618],"genre_scores_gemma":[0.9981292,0.0001713455,0.0004256162,0.0000650465,0.00001932792,0.000008375351,0.000156133,0.000008343644,0.001016712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002162491,"threshold_uncertainty_score":0.007234216,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009345171679443338,"score_gpt":0.2515993512638086,"score_spread":0.2422541795843653,"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."}}