{"id":"W4379144629","doi":"10.1038/s10038-023-01162-0","title":"Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10","year":2023,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital","funders":"","keywords":"Missense mutation; Biology; RNA splicing; RNA-binding protein; Genetics; Phenotype; Alternative splicing; Nonsense-mediated decay; Gene; RNA recognition motif; RNA; Exon","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":[0.0001783175,0.001045516,0.0003992626,0.00106511,0.0004477911,0.0003327169,0.0006485318,0.001462454,0.003818925],"category_scores_gemma":[0.000433486,0.0001901325,0.0006985928,0.0003366075,0.0005423615,0.0001637721,0.0003189076,0.0005339503,0.0009144046],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002683628,"about_ca_system_score_gemma":0.0002832343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001914967,"about_ca_topic_score_gemma":0.001507884,"domain_scores_codex":[0.9998664,0.00002099146,0.00002367035,0.00002958495,0.00003455636,0.00002479629],"domain_scores_gemma":[0.999759,0.00009518283,0.00004957602,0.00001422087,0.00002194035,0.00006012478],"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":[0.001010305,0.0001296725,0.009610399,0.0001751623,0.000113871,0.1767452,0.0002607955,0.0006941788,0.8019624,0.001564828,0.0008071318,0.006926119],"study_design_scores_gemma":[0.0002270393,0.0007793366,0.09063161,0.0001320804,0.0005858541,0.3862985,0.0006813905,0.01073331,0.4924721,0.002307906,0.01505995,0.000090977],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990422,0.00103552,0.003392583,0.0006626215,0.0001961342,0.00002734208,0.0009277376,0.0002067997,0.003129286],"genre_scores_gemma":[0.9953695,0.0002793734,0.002492197,0.000185601,0.0000431,0.00000813879,0.0003878673,0.00004079397,0.001193457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003818925,"threshold_uncertainty_score":0.0127756,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02182328762846839,"score_gpt":0.2868135923002722,"score_spread":0.2649903046718038,"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."}}