Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Published 2020 View Full Article

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Title
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion
Authors
Keywords
FMR1, FRAXA, Intragenic variants, Whole exome sequencing, WES, Whole genome sequencing, WGS, FMRP, Fragile X syndrome, FXS, No repeat expansion
Journal
European Journal of Medical Genetics
Volume 63, Issue 10, Pages 104010
Publisher
Elsevier BV
Online
2020-07-18
DOI
10.1016/j.ejmg.2020.104010

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