Article

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections

2022-08-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background and Motivation:</bold> Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying pathological mechanisms are often unclear.<bold>Method:</bold> We collated a dataset comprising 224 human repeat expansions encompassing 203 different genes, and performed a systematic analysis with respect to key features at the DNA-, RNA- and prot...

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Literature Corpus work: b36c0191-5af3-5ae9-9f4f-3bf6f90359a0
DOI: 10.21203/rs.3.rs-1922350/v1

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