Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
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DOI: 10.1002/ana.26609
Abstract: Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic mutations in the brain by deep sequencing and… read more here.
Keywords: level somatic; focal cortical; cortical dysplasia; low level ... See more keywords
Improving detection level of somatic mosaicism in neurofibromatosis type 1
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DOI: 10.1093/annonc/mdz238.083
Abstract: Abstract Background Neurofibromatosis type 1 (NF-1) is a tumor predisposition syndrome resulting from mutations in NF1 antioncogene. Differential diagnosis with genetic testing is essential in NF-1 diagnostics due to its clinical variability. Identifying of pathogenic… read more here.
Keywords: level somatic; somatic mosaicism; analysis; neurofibromatosis ... See more keywords