Browsing Artículos by Subject "c.3955_3958dup"

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Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.

Rodriguez, Richard S.; Cornejo-Olivas, Mario; Bazalar-Montoya, Jeny; Sarapura-Castro, Elison; Torres-Loarte, Mariela; Rivera-Valdivia, Andrea; Sullcahuamán Allende, Yasser Ciro (Karger, 2021)

Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound ...