Fig. 3From: A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5Sanger sequencing chromatograms show a frameshift variant c.718_719delAT/ p.Met240fs in the proband (a) and his mother (b), not in his father (c)Back to article page