Genes and Pseudogenes: Complexity of the RCCX Locus and Disease

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease

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...

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Bibliographic Details
Main Authors:	Cinzia Carrozza, Laura Foca, Elisa De Paolis, Paola Concolino
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2021-07-01
Series:	Frontiers in Endocrinology
Subjects:	RCCX haplotypes Congenital Adrenal Hyperplasia (CAH) CAH-X Copy Number Variation (CNV) Complement Component C4
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2021.709758/full

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