{"id":"W2102243054","doi":"10.1681/asn.2013091013","title":"Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome","year":2014,"lang":"en","type":"article","venue":"Journal of the American Society of Nephrology","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Aging","funders":"Japan Society for the Promotion of Science; Kidney Foundation, Japan; Consejo Nacional de Ciencia y Tecnología","keywords":"Gitelman syndrome; Exon; Missense mutation; Exon skipping; Minigene; Genetics; Biology; RNA splicing; Mutation; Exonic splicing enhancer; Gene; Alternative splicing; Chemistry; RNA","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":[0.00009390694,0.0005904073,0.0001754213,0.0004414635,0.0001740932,0.0001116969,0.0001094249,0.0004449882,0.0008193444],"category_scores_gemma":[0.0003278374,0.0001307163,0.000283321,0.0002495654,0.0003134473,0.00006886688,0.0001856839,0.000271587,0.0002807538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001455894,"about_ca_system_score_gemma":0.000121436,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005209504,"about_ca_topic_score_gemma":0.0008813433,"domain_scores_codex":[0.9999297,0.00001264009,0.000009049885,0.00001477858,0.00002341968,0.00001045861],"domain_scores_gemma":[0.9999143,0.00003072689,0.00002689413,0.00000460153,0.000004831292,0.00001858875],"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":[0.0004043051,0.00009231141,0.04823533,0.0001426799,0.0001151317,0.1024407,0.0003200972,0.00109647,0.8292629,0.0005346803,0.0006317145,0.01672374],"study_design_scores_gemma":[0.0002136511,0.0006313684,0.3594276,0.00007904575,0.0003286761,0.3111703,0.0001789593,0.007340049,0.314413,0.001443475,0.004713513,0.00006038862],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979066,0.0002019621,0.001232187,0.00007753477,0.00001110208,0.00001212097,0.00009499097,0.00007598241,0.0003875665],"genre_scores_gemma":[0.9979616,0.0001921216,0.001371368,0.00008850509,0.000009773677,0.000009538569,0.0001222397,0.00001777643,0.0002270783],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008193444,"threshold_uncertainty_score":0.002741039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008138329517256813,"score_gpt":0.241600092936512,"score_spread":0.2334617634192551,"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."}}