{"id":"W2136943416","doi":"10.1136/jmg.40.11.e126","title":"Identification of eight novel <i>NSD1</i> mutations in Sotos syndrome","year":2003,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health; University of Calgary","funders":"Core Research for Evolutional Science and Technology; Japan Science and Technology Corporation; Università degli Studi di Siena; Friedrich-Schiller-Universität Jena","keywords":"Sotos syndrome; Haploinsufficiency; Frontal Bossing; Gigantism; Genetics; Exon; Pituitary disorder; Point mutation; Biology; Craniofacial; Mutation; Medicine; Gene; Endocrinology; Anatomy; Phenotype","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":[0.0009245764,0.00009246996,0.0001963538,0.00009815842,0.00002115888,0.0000114353,0.0002752856,0.0001813044,0.00005594134],"category_scores_gemma":[0.0006652931,0.00008360681,0.0001017832,0.0001558606,0.0000823819,0.00000294116,0.00004333435,0.0001582373,0.000002481498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001045097,"about_ca_system_score_gemma":0.0002586876,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000227233,"about_ca_topic_score_gemma":0.000003994841,"domain_scores_codex":[0.9982597,0.000064648,0.0008329842,0.0001270849,0.0005508505,0.0001647282],"domain_scores_gemma":[0.999096,0.00002591001,0.0003890624,0.0001845151,0.0001654258,0.0001390731],"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":[0.000007714289,0.0004744554,0.01640582,0.00006529165,0.0000796583,0.00002312519,0.0001269801,0.0008715508,0.976927,0.000159504,0.0002585125,0.00460037],"study_design_scores_gemma":[0.004711424,0.001414477,0.1248331,0.0002646842,0.0001190583,0.005216816,0.0007515738,0.001232606,0.8288684,0.0007208508,0.03142208,0.0004448874],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9817336,0.001523401,0.01600059,0.0002087212,0.0003224431,0.00007540064,0.000003904759,8.563338e-7,0.0001310877],"genre_scores_gemma":[0.9959909,0.000770405,0.003005282,0.00007646588,0.00006443355,0.000002028773,0.000004063513,0.00001278082,0.0000735965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1480586,"threshold_uncertainty_score":0.3409387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01201820308054528,"score_gpt":0.2707036943306337,"score_spread":0.2586854912500884,"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."}}