{"id":"W4387339478","doi":"10.1186/s12883-023-03397-y","title":"Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability","year":2023,"lang":"en","type":"article","venue":"BMC Neurology","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Windsor","funders":"Universität Ulm","keywords":"Missense mutation; Exome sequencing; Intellectual disability; In silico; Genetics; Gene; Choroid plexus; Exome; Exon; Medicine; Biology; Bioinformatics; Mutation; Internal medicine","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":[0.0004917097,0.0009599266,0.0007430189,0.0008646272,0.0005785644,0.0006358309,0.0008109087,0.0009836471,0.004103157],"category_scores_gemma":[0.001528753,0.000316672,0.001339378,0.0005593563,0.0002939308,0.0003381006,0.0004656017,0.0005239961,0.0006951622],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005763211,"about_ca_system_score_gemma":0.0009964942,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005422503,"about_ca_topic_score_gemma":0.005995181,"domain_scores_codex":[0.999846,0.00005482199,0.00001074254,0.00003623806,0.00002686848,0.0000253983],"domain_scores_gemma":[0.9993578,0.0004883501,0.00005510567,0.0000218435,0.00004200266,0.00003482804],"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":[0.00150239,0.0007284735,0.1032316,0.001058214,0.0007526335,0.005865674,0.0002781798,0.8170092,0.03639923,0.005815532,0.003222092,0.02413672],"study_design_scores_gemma":[0.0002149699,0.0002625963,0.01076074,0.00006335166,0.0003335828,0.0007287594,0.0002005015,0.9791197,0.00262517,0.003312843,0.002347115,0.00003072],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9567584,0.000645615,0.02885247,0.0004511699,0.00004357118,0.0001660581,0.006662269,0.001092917,0.005327488],"genre_scores_gemma":[0.9728162,0.0002881301,0.0211038,0.00007008334,0.00001114194,0.00008587807,0.005228509,0.00008499079,0.00031121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005422503,"threshold_uncertainty_score":0.01372641,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06764090404692917,"score_gpt":0.2743751310518971,"score_spread":0.206734227004968,"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."}}