{"id":"W4378232423","doi":"10.3389/fneur.2023.1168307","title":"Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms","year":2023,"lang":"en","type":"article","venue":"Frontiers in Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Windsor","funders":"Higher Education Commision, Pakistan; Universität Ulm","keywords":"Genetics; Missense mutation; Frameshift mutation; Exome sequencing; Biology; Sanger sequencing; Exome; Nonsense mutation; Exon; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003170257,0.0005526377,0.0006844759,0.0003856671,0.0007030084,0.0004714774,0.000836011,0.0007878901,0.003810747],"category_scores_gemma":[0.0005090548,0.0002466144,0.000943155,0.0002962021,0.000372415,0.0003429147,0.000299136,0.0005688388,0.0002075131],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007406157,"about_ca_system_score_gemma":0.001058383,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01584191,"about_ca_topic_score_gemma":0.012782,"domain_scores_codex":[0.9999233,0.00001913803,0.000003559935,0.00001296576,0.00001312581,0.00002788772],"domain_scores_gemma":[0.9998527,0.00007291215,0.00002022358,0.000007455702,0.00001588961,0.0000308399],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0006215215,0.0004157069,0.02308193,0.0001649996,0.0004628706,0.002223942,0.0001709615,0.9399678,0.01285064,0.0114873,0.002425738,0.006126641],"study_design_scores_gemma":[0.0001372649,0.00009644677,0.003221485,0.00001237122,0.00004568985,0.0001215508,0.00005693236,0.9937576,0.0005896863,0.001287457,0.0006569949,0.00001657561],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858605,0.0002446657,0.009231417,0.0002872271,0.00005680637,0.0000534569,0.0004808628,0.00009424133,0.003690833],"genre_scores_gemma":[0.9929662,0.0001335429,0.005373165,0.00005941236,0.00001237355,0.00008290498,0.0003766842,0.00002952991,0.0009661764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01584191,"threshold_uncertainty_score":0.03149939,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009454412514526415,"score_gpt":0.2432858219082215,"score_spread":0.2338314093936951,"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."}}