Ji hyeon Kim

Clinical Significance of Ataxia-Telangiectasia Mutated Pathogenic Germline Variant

Ataxia-telangiectasia mutated (ATM) encodes a serine/threonine protein kinase that coordinates the cellular response to DNA double-strand breaks.Biallelic pathogenic variants in ATM cause ataxia-telangiectasia, an autosomal recessive multisystem disorder characterized by progress...