{"id":"W2315499761","doi":"10.1038/sj.ejhg.5200846","title":"Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes","year":2002,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Genetics; Locus (genetics); Gene; Genetic linkage; Biology; Candidate gene; Exon","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":[0.0002310344,0.0001087139,0.0001973239,0.0001074194,0.0000544923,0.00001004766,0.0002445965,0.0000214798,0.00006375473],"category_scores_gemma":[0.00002172326,0.00007597297,0.0001472348,0.0001429801,0.0001159872,0.000001671908,0.00009830501,0.00006476892,0.000001225496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000535663,"about_ca_system_score_gemma":0.00001342334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000252904,"about_ca_topic_score_gemma":0.00001440032,"domain_scores_codex":[0.9990203,0.000138255,0.0004264697,0.0001158805,0.0001941166,0.0001049544],"domain_scores_gemma":[0.9991665,0.000006601487,0.0004307733,0.0002220609,0.0001241393,0.00004990246],"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":[0.0001261419,0.0002524876,0.05628655,0.00005632114,0.00185912,0.00003132824,0.001109593,0.003430069,0.9197979,0.00003587415,0.006083231,0.01093141],"study_design_scores_gemma":[0.002666237,0.003759277,0.5210817,0.0001510799,0.001465279,0.00003656918,0.0004888885,0.0002694123,0.442101,0.0000395285,0.02745016,0.0004908161],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933308,0.003291992,0.0000304199,0.00007828708,0.00005633289,0.00004497206,0.00000977216,7.64452e-7,0.003156705],"genre_scores_gemma":[0.9970207,0.002038018,0.0001639929,0.0000714795,0.00005452015,1.969739e-7,0.000006789478,0.00001271006,0.0006315436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4776969,"threshold_uncertainty_score":0.3098088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01191913774852973,"score_gpt":0.2243267485823322,"score_spread":0.2124076108338025,"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."}}