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. 2014 Jan 21;9(1):e85334. doi: 10.1371/journal.pone.0085334

Figure 1. Identification of a novel missense mutation in the ERCC4 gene.

Figure 1

Identification of the missense mutation p.E17V (c.50A>T) in the ERCC4 gene by direct sequencing (reverse strand). Left panel: wildtype, right panel: heterozygous carrier of p.E17V.