Article

Polygenic modifiers of expressivity in telomere biology disorders

2024-10-21

Abstract excerpt

Variable expressivity, where individuals carrying identical genetic variants display diverse phenotypes, presents an important challenge in clinical genetics. This is exemplified by the telomere biology disorders (TBDs), which exhibit tremendous clinical heterogeneity despite their presumed monogenic nature, even among individuals harboring the same pathogenic variant. Here, we studied cohorts of patients with TBD...

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Literature Corpus work: 695ab0f0-5c4d-51d7-a255-c84f6400e054
DOI: 10.1101/2024.10.17.24315475

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