Article

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders

2014-11-17

Abstract excerpt

<h4>ABSTRACT</h4> Rare copy-number variants (CNVs) are a significant cause of neurodevelopmental disorders. The sequence architecture of the human genome predisposes certain individuals to deletions and duplications within specific genomic regions. While assessment of individuals with different breakpoints has identified causal genes for certain rare CNVs, deriving gene-phenotype correlations for rare CNVs with s...

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Literature Corpus work: 7c6d1e3b-3204-5a43-86c6-a4bc120da0b2
DOI: 10.1101/011510

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