Fig. 4From: 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 5CNV analysis revealed a heterozygous deletion on chromosome 13 at 13q21.33q31.3(72,306,245–79,485,372) in proband (a), the deletion was absent from the paternal (b) and maternal (c) chromosomesBack to article page