{"id":"W2955502280","doi":"10.1002/mus.26622","title":"Family with primary periodic paralysis and a mutation in <i>MCM3AP</i>, a gene implicated in mRNA transport","year":2019,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver Coastal Health","funders":"Leading Edge Endowment Fund; Canada Excellence Research Chairs, Government of Canada; Genome British Columbia","keywords":"Biology; Mutation; Genetics; Gene; Periodic paralysis; Messenger RNA; Somatic cell; Exome sequencing; Paralysis; Medicine","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":[0.0001992283,0.001710831,0.0003851593,0.0009015846,0.0008297956,0.0002704987,0.0003775774,0.001161306,0.004658239],"category_scores_gemma":[0.0005110084,0.0002869766,0.0004997412,0.0004506585,0.0006508131,0.0002707062,0.0004595336,0.0005979426,0.0006744804],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003148303,"about_ca_system_score_gemma":0.0003213924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001561629,"about_ca_topic_score_gemma":0.001012701,"domain_scores_codex":[0.9997974,0.0000246706,0.00001900667,0.00007105016,0.00004342434,0.0000445429],"domain_scores_gemma":[0.9997254,0.0000849796,0.0000675448,0.00001360828,0.00002015192,0.00008827299],"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":[0.0004487289,0.0002162621,0.04878138,0.0001030688,0.0001264108,0.8670376,0.0005585469,0.0001965973,0.07391168,0.0005359806,0.001360541,0.006723168],"study_design_scores_gemma":[0.00006756718,0.0002912528,0.1007693,0.00003378796,0.0000761101,0.8855356,0.0001489732,0.0005366912,0.0101738,0.0003046702,0.002033973,0.0000282432],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991236,0.000748143,0.001924153,0.0006960848,0.0001105138,0.00006502518,0.0004568069,0.0001312425,0.004631992],"genre_scores_gemma":[0.9978186,0.0001220541,0.0004769712,0.0001666408,0.00007811006,0.00001129495,0.0001381089,0.00001106388,0.001177139],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004658239,"threshold_uncertainty_score":0.0155834,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007121271860324863,"score_gpt":0.2256793108305647,"score_spread":0.2185580389702399,"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."}}