{"id":"W2165974859","doi":"10.1093/hmg/ddu614","title":"Homozygous mutation of <i>STXBP5L</i> explains an autosomal recessive infantile-onset neurodegenerative disorder","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Paediatric Society","funders":"National Health and Medical Research Council; Australian Research Council; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; Medical Research Council; Women's and Children's Hospital Foundation; Channel 7 Children's Research Foundation; ZonMw; Australian Government; National Institutes of Health; Children's Hospital Foundation","keywords":"Biology; Disease gene identification; Missense mutation; Genetics; Exome sequencing; Compound heterozygosity; Mutation; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000144114,0.0002608765,0.0002285655,0.00008057486,0.0001439687,0.00003002606,0.0002564272,0.0002091746,0.00002897375],"category_scores_gemma":[0.00002820906,0.0002854912,0.0001394404,0.000116914,0.0001620795,0.000007814161,0.00005583403,0.000117146,0.000004383662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006856975,"about_ca_system_score_gemma":0.00004946057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002735504,"about_ca_topic_score_gemma":0.0001858225,"domain_scores_codex":[0.9983955,0.0001977533,0.0003820356,0.0005002986,0.0002506652,0.0002737413],"domain_scores_gemma":[0.9989044,0.000007046398,0.0001893967,0.0005932449,0.0001845035,0.0001214303],"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":[0.00004259049,0.0001331168,0.003714466,0.00002457348,0.00003407808,0.00002407168,0.0002914466,0.00273437,0.9916098,0.0003268112,0.00002408342,0.001040617],"study_design_scores_gemma":[0.001310599,0.001714367,0.02464134,0.00002100856,0.0001092649,0.00007429569,0.0001382689,0.002444762,0.9606122,0.0005295822,0.007812507,0.00059178],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8977278,0.0004423269,0.1009171,0.00001802136,0.0001021506,0.0002305169,0.00003466293,0.00002153058,0.0005058636],"genre_scores_gemma":[0.9925744,0.00009077407,0.001457039,0.0001876735,0.0001282059,0.00002424302,0.005392488,0.00006071701,0.00008446527],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0994601,"threshold_uncertainty_score":0.9999597,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007385022284305581,"score_gpt":0.2400573875241975,"score_spread":0.2326723652398919,"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."}}