Article

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects

2024-06-18

Abstract excerpt

<h4>ABSTRACT</h4> Huntington’s disease (HD), due to expansion of a CAG repeat in HTT , is representative of a growing number of disorders involving somatically unstable short tandem repeats. We find that overlapping and distinct genetic modifiers of clinical landmarks and somatic expansion in blood DNA reveal an underlying complexity and cell-type specificity to the mismatch repair-related processes that influen...

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Literature Corpus work: 7b2821d1-ac92-54c9-b237-40e6fb033371
DOI: 10.1101/2024.06.10.597797

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