{"id":"W4391738055","doi":"10.1016/j.gim.2024.101097","title":"Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Calcium signaling and nucleotide metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; McGill Genome Centre; McGill University Health Centre","funders":"National Institute of General Medical Sciences; Fonds Wetenschappelijk Onderzoek; Swedish Orphan Biovitrum; National Institutes of Health; McGill University Health Centre; McGill University","keywords":"Proband; Compound heterozygosity; Lysosome; Biology; Exome sequencing; Phenotype; Neurodevelopmental disorder; Loss function; Gene; Exome; Genetics; Molecular biology; Mutation; Cell biology; Biochemistry; Enzyme","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002401427,0.001811655,0.000513139,0.001067838,0.000953351,0.0004275381,0.0005868641,0.001831417,0.003909472],"category_scores_gemma":[0.001044928,0.0003409294,0.0004959182,0.0007937284,0.0009009972,0.0002919089,0.0008077517,0.0007929187,0.0005963183],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003555689,"about_ca_system_score_gemma":0.0004672258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002875469,"about_ca_topic_score_gemma":0.00462227,"domain_scores_codex":[0.9995995,0.00005775777,0.00007661212,0.0001070681,0.0001069433,0.00005218139],"domain_scores_gemma":[0.9992788,0.0002142264,0.0002341611,0.00002782412,0.00005034281,0.0001945298],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002836057,0.0003530354,0.08180132,0.000184491,0.0004409787,0.4003739,0.000843587,0.0008805662,0.4961533,0.002441301,0.002398348,0.01129303],"study_design_scores_gemma":[0.0003469249,0.0008768762,0.3772188,0.0001257035,0.0007191856,0.5293161,0.001065768,0.006075575,0.07497918,0.002449119,0.006681055,0.0001457188],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940995,0.0003838178,0.002061082,0.0005678716,0.0001121668,0.00004383769,0.000816641,0.0001105152,0.001804666],"genre_scores_gemma":[0.9977749,0.0001030093,0.001071749,0.000118024,0.00003192402,0.00001027973,0.0001916351,0.00003416785,0.0006643067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003909472,"threshold_uncertainty_score":0.01307845,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01458209169560087,"score_gpt":0.2663545039816184,"score_spread":0.2517724122860175,"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."}}