{"id":"W2568127139","doi":"10.1093/brain/aww318","title":"A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis","year":2016,"lang":"en","type":"article","venue":"Brain","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":78,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"Biomedical Research Council; National Medical Research Council; Medical Research Council; Ministry of Education, India; National University of Singapore; Agency for Science, Technology and Research; National Research Foundation; Newlife the Charity for Disabled Children","keywords":"Phosphatidylethanolamine; Hereditary spastic paraplegia; Glycerophospholipid; Biology; Mutation; Biochemistry; Biosynthesis; Gene; Phosphatidylcholine; Phospholipid; Genetics; Phenotype","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":[0.00009443137,0.0009927579,0.000343568,0.0004982216,0.0003620027,0.0002067242,0.000235648,0.0005570249,0.00143032],"category_scores_gemma":[0.0002165868,0.0001073246,0.0002166254,0.0002649525,0.0005695359,0.0001562932,0.000488398,0.0003988063,0.0003165413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001940427,"about_ca_system_score_gemma":0.0002039368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007085507,"about_ca_topic_score_gemma":0.0007230368,"domain_scores_codex":[0.9999001,0.00001285845,0.00001325159,0.00003704396,0.00002004768,0.00001667541],"domain_scores_gemma":[0.9998742,0.00002943032,0.0000551676,0.000008022579,0.000009902483,0.00002324264],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001146277,0.000129225,0.02353148,0.0002659238,0.000124527,0.1967952,0.000422934,0.0004892895,0.7461422,0.00220747,0.001119753,0.02762577],"study_design_scores_gemma":[0.00007064176,0.0008425128,0.1068411,0.00008879012,0.0002313553,0.5807576,0.0002762311,0.001823114,0.2925724,0.001067238,0.01537828,0.00005072074],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912614,0.001277182,0.004279811,0.0002209207,0.00004183596,0.00003456561,0.0004186452,0.000147384,0.002318216],"genre_scores_gemma":[0.9955323,0.000931556,0.001752028,0.00005683162,0.00003248948,0.00001168953,0.0003558958,0.00001895489,0.001308185],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00143032,"threshold_uncertainty_score":0.004784942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02499178398977982,"score_gpt":0.2348014579522241,"score_spread":0.2098096739624442,"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."}}