{"id":"W7006440266","doi":"","title":"Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders","year":2021,"lang":"en","type":"article","venue":"EUR Research Repository (Erasmus University Rotterdam)","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; Intellectual and Developmental Disabilities Research Center; Manton Center for Orphan Disease Research, Boston Children's Hospital; Associazione Italiana per la Ricerca sul Cancro; Ministerio de Ciencia e Innovación; Institució Catalana de Recerca i Estudis Avançats; Children's Hospital Foundation; Deutsche Forschungsgemeinschaft; Genome British Columbia; Broad Institute; BC Children's Hospital; National Institutes of Health","keywords":"Endosome; Encoding (memory); Mutation; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003855342,0.0001542426,0.0001875221,0.0002724212,0.0002577785,0.00003183081,0.0003115204,0.0001859566,0.00007685905],"category_scores_gemma":[0.00007441668,0.0001872393,0.0000796215,0.0004065803,0.0001668972,0.0000273454,0.0003553125,0.0003684531,0.000006793354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009642031,"about_ca_system_score_gemma":0.0004295839,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003008706,"about_ca_topic_score_gemma":0.0008426038,"domain_scores_codex":[0.9972876,0.00116204,0.0002120769,0.0006211773,0.000293772,0.0004233897],"domain_scores_gemma":[0.9991587,0.00004252142,0.00007048483,0.000441596,0.0001262956,0.0001603713],"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":[0.0006021166,0.0002932582,0.03146694,0.00004629192,0.00002751691,0.0007514198,0.000342923,0.00002918848,0.9653278,0.0004621865,0.0003548761,0.0002954748],"study_design_scores_gemma":[0.004085212,0.001340747,0.04631567,0.00007428882,0.00001278995,0.00036535,0.002264232,0.0001717418,0.9055597,0.0001482284,0.03919116,0.0004709573],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873638,0.00006799914,0.0007828588,0.0002421209,0.0003972975,0.0004220894,0.00001241248,0.00001693512,0.01069446],"genre_scores_gemma":[0.9934358,0.0002606187,0.0004606443,0.00006554053,0.0001553675,0.000006096092,0.00008863875,0.00002096342,0.005506315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05976818,"threshold_uncertainty_score":0.7635397,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03069187138552983,"score_gpt":0.2789332922438618,"score_spread":0.248241420858332,"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."}}