{"id":"W2086465071","doi":"10.1038/sj.ejhg.5201799","title":"Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females","year":2007,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":76,"is_retracted":false,"has_abstract":false,"ca_institutions":"Queen Elizabeth II Health Sciences Centre; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Health Sciences Centre; Dalhousie University","funders":"Canadian Institutes of Health Research; Killam Trusts; Canadian Hemophilia Society","keywords":"Genetics; X-inactivation; Heterozygote advantage; Biology; Haemophilia A; Haemophilia; Chromosome; Skewed X-inactivation; X chromosome; Genotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0008296547,0.0001634156,0.0002056136,0.0002618265,0.00008310501,0.00004053813,0.0003137689,0.00005934902,0.00004041334],"category_scores_gemma":[0.00008084559,0.0001497091,0.0001017948,0.0001822612,0.00006736377,0.000009324503,0.0001236198,0.0001618422,0.00001668321],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002021986,"about_ca_system_score_gemma":0.00002622387,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001298256,"about_ca_topic_score_gemma":0.00002024592,"domain_scores_codex":[0.9983894,0.0001595968,0.0007416285,0.0002030168,0.000238312,0.0002680343],"domain_scores_gemma":[0.9991384,0.00001821921,0.0002686696,0.0002153647,0.0001787919,0.000180542],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001328248,0.0001545195,0.004808769,0.0000175619,0.0000110593,0.0001547335,0.0003449117,0.0001805874,0.9897804,0.0000176718,0.0005824878,0.003814471],"study_design_scores_gemma":[0.001269126,0.003125081,0.1492217,0.0001347117,0.00001217565,0.0001353723,0.0006927506,0.000002886089,0.8294145,0.00009558824,0.01560783,0.0002882028],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944348,0.0004013841,0.001056092,0.0001163163,0.0001721243,0.00009696804,0.000002259439,0.000005610981,0.003714416],"genre_scores_gemma":[0.9951633,0.0001539989,0.002907566,0.0003303235,0.0005301384,7.850763e-7,0.00000913063,0.00003163702,0.0008731367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1603658,"threshold_uncertainty_score":0.6104961,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02667345468464032,"score_gpt":0.2929248328928581,"score_spread":0.2662513782082178,"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."}}