A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients
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DOI: 10.1038/s41431-019-0465-7
Abstract: CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes a chromodomain protein, involved in the ATP-dependent remodeling of chromatin. The… read more here.
Keywords: expression; charge syndrome; study; chd7 protein ... See more keywords