{"id":"W3017327978","doi":"10.1002/ajmg.a.61599","title":"Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review","year":2020,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Proband; Medicine; Psychology; Genetics; Biology; Mutation","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":[0.0004199723,0.000748515,0.001206766,0.005697246,0.0002688819,0.0006174216,0.0006321974,0.0005521696,0.003015635],"category_scores_gemma":[0.0008653966,0.0002187347,0.0005180794,0.003586849,0.0003159486,0.000698729,0.0005248482,0.0005416728,0.001155516],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000397364,"about_ca_system_score_gemma":0.0008980819,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001157605,"about_ca_topic_score_gemma":0.002211088,"domain_scores_codex":[0.9998059,0.00002954749,0.00005733533,0.00003821374,0.00005096116,0.0000180687],"domain_scores_gemma":[0.9996812,0.0001842144,0.00005024004,0.000010156,0.00004885615,0.0000252152],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009323954,0.00004175565,0.001847267,0.02222167,0.0002591423,0.008380215,0.0002098856,0.0002372668,0.003215574,0.0009718512,0.02525342,0.9372687],"study_design_scores_gemma":[0.00004153833,0.0001589265,0.01757891,0.0195361,0.001330148,0.1309029,0.0004014472,0.000155353,0.002129896,0.001952306,0.8257097,0.000102768],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001176773,0.9961603,0.0002461394,0.0002533821,0.000118139,0.00001154095,0.0001091693,0.00001735891,0.001907185],"genre_scores_gemma":[0.004909374,0.9930497,0.0005516684,0.0003149435,0.0001550702,0.00001290224,0.0002764153,0.00000499394,0.0007247915],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005697246,"threshold_uncertainty_score":0.01008832,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02124044262956586,"score_gpt":0.3484913884202473,"score_spread":0.3272509457906815,"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."}}