Article
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Frontiers in endocrinology - 1 Jan 2021
Carrozza Cinzia, Foca Laura, De Paolis Elisa, Concolino Paola
Abstract excerpt
Copy Number Variations (CNVs) account for a large proportion of human genome and are a primary contributor to human phenotypic variation, in addition to being the molecular basis of a wide spectrum of disease. Multiallelic CNVs represent a considerable fraction of large CNVs and are strictly related to segmental duplications according to their prevalent duplicate alleles. RCCX CNV is a complex, multiallelic and...
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