Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans.
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DOI: 10.1016/j.ejmg.2019.103828
Abstract: Williams syndrome is a complex condition resulting from the heterozygous deletion of nearly 30 genes in chromosome 7. However, precise genotype-to-phenotype mappings are not available for most of its distinctive features. Because WS entails changes… read more here.
Keywords: enriched protein; protein coding; williams syndrome; dysregulated blood ... See more keywords