{"id":"W2345760292","doi":"10.1007/s00439-016-1675-5","title":"The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature","year":2016,"lang":"en","type":"review","venue":"Human Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Mount Sinai Hospital; Lakeridge Health; Hospital for Sick Children","funders":"","keywords":"Biology; Intellectual disability; Phenotype; Microcephaly; Genetics; Mutation; Angelman syndrome; Rett syndrome; Fragile X syndrome; UBE3A; 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":[0.0003106214,0.0008157301,0.001378099,0.003266572,0.0002936613,0.001038244,0.0007050131,0.001079593,0.002068511],"category_scores_gemma":[0.001070571,0.0002175552,0.0004920855,0.00227913,0.0005524586,0.001237022,0.0006188582,0.0007274331,0.0006156036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000288498,"about_ca_system_score_gemma":0.0005667639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006476099,"about_ca_topic_score_gemma":0.001296983,"domain_scores_codex":[0.9997798,0.00002981472,0.00006733931,0.00004921319,0.0000484346,0.00002546805],"domain_scores_gemma":[0.9994966,0.0002648595,0.0001184967,0.00001809418,0.00005789089,0.0000439943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0001441693,0.00007565367,0.01078074,0.01229436,0.0002436844,0.2433313,0.0005229738,0.0005229783,0.00819734,0.001812068,0.02296015,0.6991146],"study_design_scores_gemma":[0.00001799893,0.0000497841,0.008337813,0.004184561,0.0004303517,0.811895,0.0004548021,0.000188636,0.001082477,0.001650402,0.1716497,0.00005850899],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007378265,0.9880525,0.0006382407,0.0009406977,0.0002457634,0.000009828088,0.0001057164,0.00003044482,0.002598632],"genre_scores_gemma":[0.03907411,0.9564914,0.001339801,0.0009245833,0.0008814736,0.00001051524,0.0001812555,0.00001370806,0.001083191],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003266572,"threshold_uncertainty_score":0.006919861,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02066044893561742,"score_gpt":0.3033835518031925,"score_spread":0.2827231028675751,"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."}}