https://www.selleckchem.com/
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co-segregation of two ATM gene variants with ataxia telangiectasia in an Egyptian family. While one of these variants (NM_000051.4(ATM_i001)p.(Val128*)) has previously been reported as pathogenic, the other one (NM_000051.4(ATM_i001)p.(Val1729Leu)) is regarded as a
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