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pro vyhledávání: '"Kyla Javier"'
Autor:
Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen, Michael R. Hayden
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101882- (2024)
ABSTRACT: Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurat
Externí odkaz:
https://doaj.org/article/4e9696c78b4448d1923e17da1c298c47
