{"id":"W1624928428","doi":"10.1111/j.1399-0004.2006.00634.x","title":"A cryptic full mutation in a male with a classical Fragile X phenotype","year":2006,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"Proband; Genetics; Fragile X syndrome; Phenotype; Allele; Fragile x; Biology; Peripheral blood; Chromosomal fragile site; Mutation; Chromosome; 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":[0.000137152,0.000160255,0.0001697572,0.00003651033,0.00003655541,0.00002220559,0.0001515363,0.0001802578,0.00004099145],"category_scores_gemma":[0.00004861103,0.0001465533,0.00006813886,0.0001366706,0.0001514286,0.000001544095,0.00008199356,0.000142282,0.00004644055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008947989,"about_ca_system_score_gemma":0.0001048763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008944819,"about_ca_topic_score_gemma":0.0003086378,"domain_scores_codex":[0.9986436,0.00007299971,0.0004243413,0.0004412366,0.0001461785,0.0002715882],"domain_scores_gemma":[0.9994898,0.00002819035,0.00007993351,0.0002647146,0.00005552494,0.00008185975],"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":[0.001992075,0.002901608,0.4117309,0.0001051849,0.0001423048,0.0002704303,0.0001255705,0.01079893,0.5050488,0.0004553033,0.01551514,0.05091377],"study_design_scores_gemma":[0.003558118,0.00275033,0.9409267,0.0000287393,0.0000406871,0.00004890253,0.00007215905,0.001613505,0.00857861,0.001186459,0.04057692,0.0006188398],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951281,0.0004546465,0.001534266,0.0001741322,0.0001154114,0.0002069095,0.0000053774,0.000009048737,0.002372114],"genre_scores_gemma":[0.990683,0.0001738496,0.007747995,0.000401463,0.00009307681,0.00002291027,0.0000922566,0.00003045614,0.0007550057],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5291958,"threshold_uncertainty_score":0.597627,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01576605608679905,"score_gpt":0.2814437102911976,"score_spread":0.2656776542043986,"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."}}