ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes
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DOI: 10.1002/humu.23367
Abstract: Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with… read more here.
Keywords: variants identified; ercc4 variants; second case; identified cohort ... See more keywords