{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001563793,0.0001035838,0.0001545173,0.00008248746,0.00002110499,0.00001576844,0.00008267675,0.00007770049,0.000007285567],"category_scores_gemma":[0.000005054098,0.00009031854,0.00003289557,0.0002176557,0.00003036971,0.000007617993,0.00002371171,0.0000942786,0.000003895386],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002160129,"about_ca_system_score_gemma":0.00006473657,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000970493,"about_ca_topic_score_gemma":0.0007881839,"domain_scores_codex":[0.9991312,0.00003879661,0.000157024,0.0003170579,0.0001108423,0.0002450871],"domain_scores_gemma":[0.999674,0.00000602136,0.00003223293,0.0001986218,0.00002661413,0.00006249049],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001552949,0.00003543194,0.1742554,0.00002099434,0.00001144924,0.00004908343,0.00008356382,0.0001840684,0.820461,0.000002006237,0.00000765275,0.004734053],"study_design_scores_gemma":[0.001621365,0.0003094184,0.9787256,0.00002301074,0.000006775736,0.00001855821,0.0001300106,0.0005473876,0.01803158,0.000008142688,0.0004272567,0.0001509121],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985168,0.0005828519,0.0001234739,0.00009402743,0.000007047121,0.0002618453,0.000006839171,0.000006064757,0.0004010398],"genre_scores_gemma":[0.9989358,0.0001717837,0.0002355014,0.0001609108,0.00001553399,0.00004287783,0.000159213,0.00001474541,0.0002636215],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8044702,"threshold_uncertainty_score":0.3683083,"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."}}