Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tub...
Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
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Turkey: Galenos Yayinevi Tic. Ltd
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Language
English
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Turkey: Galenos Yayinevi Tic. Ltd
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Contents
Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, consideration of TSC1/TSC2 pathogenic variations is recommended i...
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Full title
Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
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TN_cdi_doaj_primary_oai_doaj_org_article_0720d5a2a0974a608c095726601377e5
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0720d5a2a0974a608c095726601377e5
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ISSN
2146-3123
E-ISSN
2146-3131
DOI
10.5152/balkanmedj.2021.21092
