{"id":"W3015642935","doi":"10.1111/cge.13755","title":"Further delineation of the female phenotype with <scp> <i>KDM5C</i> </scp> disease causing variants: 19 new individuals and review of the literature","year":2020,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Federación Española de Enfermedades Raras; Genome Canada","keywords":"Phenotype; Genetics; Disease; Biology; Clinical phenotype; Computational biology; Evolutionary biology; Bioinformatics; Medicine; Gene; Internal medicine","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":[0.0003130612,0.0001310847,0.0003033918,0.000009852308,0.00009828009,0.000009336219,0.0002789792,0.0001388552,0.00002488112],"category_scores_gemma":[0.001302453,0.00007024266,0.0001318984,0.0003125061,0.0004017782,0.000027441,0.0001698473,0.0003103263,0.000005216689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003081291,"about_ca_system_score_gemma":0.000227282,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005449065,"about_ca_topic_score_gemma":6.929303e-7,"domain_scores_codex":[0.998668,0.0003531929,0.0005550841,0.0002122166,0.00006362867,0.0001479116],"domain_scores_gemma":[0.9988342,0.0002682809,0.0003653033,0.0004013662,0.0001105803,0.00002029562],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006781868,0.002319521,0.606937,0.01367043,0.002211522,0.00001028955,0.03602109,0.001280748,0.07081828,0.002041399,0.02360077,0.2404107],"study_design_scores_gemma":[0.005221342,0.0007806696,0.6720412,0.01166265,0.001742281,0.00002155731,0.001265091,0.000106917,0.007573634,0.0006202893,0.2986214,0.000342979],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.4846594,0.5117038,0.0003236266,0.002421252,0.0003018448,0.0004057105,0.00006216051,0.0000100052,0.0001121199],"genre_scores_gemma":[0.9695612,0.02346877,0.0001220939,0.006327463,0.00001956623,0.000003068726,0.00003266666,0.0000153731,0.000449758],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.4882351,"threshold_uncertainty_score":0.2864412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02698949937826272,"score_gpt":0.2810190395542868,"score_spread":0.254029540176024,"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."}}