{"id":"W2002012888","doi":"10.1111/j.1399-0004.2010.01615.x","title":"19p13.2 microduplication causes a Sotos syndrome‐like phenotype and alters gene expression","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of British Columbia","funders":"Javna Agencija za Raziskovalno Dejavnost RS","keywords":"Sotos syndrome; Gene duplication; Genetics; Haploinsufficiency; Biology; Gene; Copy-number variation; Macrocephaly; Pseudogene; Phenotype; Genome","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":[0.00006790798,0.0008458945,0.0002966113,0.000909952,0.0001896661,0.000152325,0.0001515461,0.0003166156,0.001818856],"category_scores_gemma":[0.0003264819,0.0002016288,0.0001773904,0.0004014634,0.0003843045,0.00007883262,0.0003009539,0.0002087423,0.0002190553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001620528,"about_ca_system_score_gemma":0.00014374,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006278355,"about_ca_topic_score_gemma":0.0009953527,"domain_scores_codex":[0.9998319,0.00002418393,0.00001268377,0.00004658171,0.00005907198,0.00002556404],"domain_scores_gemma":[0.9997973,0.00004034325,0.00009246717,0.00001226894,0.000009987293,0.00004757447],"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":[0.0005897223,0.00006709526,0.05018237,0.00007257828,0.0001031356,0.03937131,0.000138796,0.0003011134,0.895001,0.0004837507,0.0003241715,0.01336504],"study_design_scores_gemma":[0.0001062384,0.0009448452,0.4747165,0.00003273899,0.0002026429,0.3013727,0.0001517571,0.001575521,0.215606,0.0006405702,0.004621057,0.00002936586],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982563,0.0002055983,0.0005910369,0.00003224071,0.000004754286,0.00001001319,0.0001634958,0.00004905004,0.000687515],"genre_scores_gemma":[0.9982277,0.0002426423,0.0006989087,0.00001664258,0.000009989773,0.00001032457,0.0001886786,0.00001360021,0.0005915845],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001818856,"threshold_uncertainty_score":0.00608474,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02157716342541003,"score_gpt":0.31028473006809,"score_spread":0.28870756664268,"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."}}