{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003268633,0.0001987727,0.0002197878,0.00003126137,0.0001085663,0.00004537113,0.0002521852,0.0003326596,0.00003016931],"category_scores_gemma":[0.0002115714,0.0001884642,0.0001034512,0.00006347774,0.0002153738,0.000002773106,0.0003201304,0.000239259,0.00003086558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002964707,"about_ca_system_score_gemma":0.00006061518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006017022,"about_ca_topic_score_gemma":0.00001422771,"domain_scores_codex":[0.9983953,0.00006348752,0.0004838445,0.0006334813,0.0001226266,0.0003013095],"domain_scores_gemma":[0.9987622,0.00004422613,0.0001564904,0.0007196015,0.0000938481,0.0002236404],"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":[0.000009206698,0.00008590755,0.06382133,0.00001388507,0.00002553206,0.000001853195,0.00001797853,0.0000089228,0.9250855,0.000004509644,0.000513556,0.01041174],"study_design_scores_gemma":[0.00114422,0.0008551039,0.4519526,0.00002434435,0.00007291973,0.0002587863,0.00004763222,0.0002188767,0.4758627,0.0001450218,0.06886472,0.0005530811],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968254,0.0008342479,0.001055965,0.0001264247,0.0007738185,0.000247904,0.000009659036,0.0000188929,0.0001076878],"genre_scores_gemma":[0.9774327,0.001102044,0.02017783,0.0004320409,0.0003792091,0.00001933291,0.0000543267,0.00003999893,0.0003625497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4492229,"threshold_uncertainty_score":0.7685345,"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."}}