Article

Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes

2017-12-13

Abstract excerpt

The development of the human brain and nervous system can be affected by genetic or environmental factors. Here we focus on characterizing the genetic perturbations that accompany and may contribute to neurodevelopmental phenotypes. Specifically, we examine two types of structural variants, namely, copy number variation and balanced chromosome rearrangements, discovered in subjects with neurodevelopmental disorder...

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Literature Corpus work: c420117f-6a07-5390-a501-28f8a4db041a
DOI: 10.1101/233197

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