{"id":"W3157363683","doi":"10.1038/s41467-021-22627-w","title":"Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Alberta Children's Hospital; University of Calgary","funders":"National Institute of Child Health and Human Development; Center for Research Computing, University of Pittsburgh; Fundación Hesperia; Northwestern University; National Institute of Neurological Disorders and Stroke; Generalitat de Catalunya; Waisman Center; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; University of Pittsburgh; National Institutes of Health; Feinberg School of Medicine; Action Medical Research; Yale University; National Human Genome Research Institute; Agence Nationale de la Recherche; Howard Hughes Medical Institute","keywords":"snRNP; Biology; Hypotonia; Ribonucleoprotein; Phenotype; Mutation; RNA-binding protein; Genetics; Ataxia; Neurodevelopmental disorder; RNA splicing; Cell biology; Gene; Neuroscience; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001013477,0.00005058351,0.00005952916,0.00004608914,0.00007464585,0.000008474195,0.0002414972,0.000114148,0.00001148444],"category_scores_gemma":[0.0002622227,0.00005350608,0.00003211099,0.0002404384,0.00006740934,0.000004151252,0.0002314111,0.0002727292,0.000002751723],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000112186,"about_ca_system_score_gemma":0.0001331995,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002168968,"about_ca_topic_score_gemma":0.002436864,"domain_scores_codex":[0.9994774,0.00009772005,0.0001300605,0.0001187969,0.00007828878,0.00009768075],"domain_scores_gemma":[0.9991177,0.00003743195,0.00003182261,0.0006502317,0.0001339709,0.00002889811],"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":[0.00003563704,0.0003558138,0.1759669,0.0000156873,0.00006186539,0.000005366093,0.0001257801,0.00008581233,0.8153481,0.002426538,0.00136472,0.004207804],"study_design_scores_gemma":[0.001427577,0.0001255251,0.8072014,0.00005117491,0.00003380386,0.00005302918,0.001006699,0.0008795905,0.07684391,0.0002992883,0.1117535,0.0003244931],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930989,0.004116318,0.000318677,0.001133854,0.00004097317,0.0000834321,0.00001782888,0.000004733319,0.001185353],"genre_scores_gemma":[0.9962635,0.0008495068,0.001517207,0.000155002,0.00001074069,0.00002312364,0.0005494679,0.000007339001,0.0006240923],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7385042,"threshold_uncertainty_score":0.2181914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01526836743297851,"score_gpt":0.3117487586893506,"score_spread":0.2964803912563721,"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."}}