{"id":"W3188491669","doi":"10.1111/cge.14039","title":"Delineating the expanding phenotype of <scp> <i>HERC2</i> </scp> ‐related disorders: The impact of biallelic loss of function versus missense variation","year":2021,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women and Children’s Health Research Institute; University of Alberta; Children's Hospital of Eastern Ontario","funders":"","keywords":"Biology; Phenotype; Neurodevelopmental disorder; Missense mutation; Ubiquitin ligase; Loss function; Genetics; Hypotonia; Ubiquitin; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005501513,0.0003229141,0.0004799634,0.00004453684,0.00008455614,0.00001775793,0.0004527467,0.0008262922,0.00001742568],"category_scores_gemma":[0.001102519,0.0002216558,0.0006238084,0.0002693243,0.0003591644,0.000002130291,0.0002663922,0.0006328285,0.000001928017],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001266397,"about_ca_system_score_gemma":0.0003187086,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004465922,"about_ca_topic_score_gemma":0.00002254039,"domain_scores_codex":[0.9971646,0.0004506215,0.001289951,0.0004764035,0.0003230194,0.0002953924],"domain_scores_gemma":[0.9971116,0.000711547,0.001021582,0.0007622946,0.0003473212,0.00004568722],"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":[0.000932208,0.001360126,0.02401265,0.000824909,0.007003538,0.00002026391,0.001655842,0.02722055,0.602565,0.00002019231,0.3022797,0.03210501],"study_design_scores_gemma":[0.02453193,0.024808,0.4742297,0.001307625,0.006186357,0.00006192612,0.003656912,0.01173527,0.1148262,0.002599889,0.3333652,0.002690937],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906116,0.004294577,0.0006398039,0.002592225,0.001027233,0.0004073097,0.00007442652,0.000005773114,0.0003470814],"genre_scores_gemma":[0.9856319,0.008377989,0.0003894073,0.004179564,0.0004553237,0.00001143758,0.0006592089,0.00007896951,0.0002161742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4877388,"threshold_uncertainty_score":0.903886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03875989270702937,"score_gpt":0.3218729864173412,"score_spread":0.2831130937103118,"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."}}