Article

Increased frequency of repeat expansion mutations across different populations

2023-07-06

Abstract excerpt

Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable geographic distributions, and technological limitations leading to under-ascertainment. Here, leveraging whole genome...

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Literature Corpus work: 40a1a4b4-68d9-5bd0-a542-bb524ab3cefe
DOI: 10.1101/2023.07.03.23292162

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