Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
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DOI: 10.1182/bloodadvances.2022007029
Abstract: Key Points A patient with a severe form of telomere biology disorder has compound heterozygous variants in TERT that interact functionally. The functional interaction between alleles explains the much more extreme phenotype in the proband… read more here.
Keywords: biology disorder; compound heterozygous; telomere biology; functional interaction ... See more keywords