{"id":"W4378471686","doi":"10.3390/genes14061154","title":"Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Center for Advancing Translational Sciences","keywords":"Rett syndrome; Neurodevelopmental disorder; Phenotype; Genetics; Biology; Neuroscience; Psychology; Medicine; Gene","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":[0.000230891,0.0006155367,0.0002353864,0.000656814,0.0003737864,0.0002040696,0.0002108268,0.0003390029,0.001507021],"category_scores_gemma":[0.001278486,0.0000978479,0.0002077979,0.0005094803,0.0004725307,0.0002040366,0.0005432552,0.0002382592,0.0002105112],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000207832,"about_ca_system_score_gemma":0.0002377735,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003041619,"about_ca_topic_score_gemma":0.004934556,"domain_scores_codex":[0.999761,0.00003063964,0.00003212067,0.00007214645,0.00007278515,0.00003115514],"domain_scores_gemma":[0.9995788,0.000102125,0.0001792283,0.00002683012,0.00004506012,0.00006802],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0003305693,0.0001132399,0.7095946,0.0002545569,0.0001056345,0.2249783,0.00175998,0.0006446212,0.03972187,0.0005551632,0.001457704,0.02048382],"study_design_scores_gemma":[0.00002168788,0.0002506456,0.6761469,0.00005116089,0.00003710261,0.3150982,0.0005642334,0.0004297782,0.004784805,0.0002605024,0.002337844,0.00001726235],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971867,0.0005017565,0.0004046559,0.00005440748,0.00001047732,0.00002181975,0.0003452313,0.00002472325,0.001450295],"genre_scores_gemma":[0.9984256,0.0002817498,0.0005563509,0.00005176177,0.00001199402,0.00001239147,0.000280865,0.000005436289,0.0003738565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003041619,"threshold_uncertainty_score":0.006047845,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00795269690459093,"score_gpt":0.2215885631266612,"score_spread":0.2136358662220703,"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."}}