Figure 3 | Human Genome Variation

Figure 3

From: Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole

Figure 3

Schematic representation of KHDC3L protein structure and all identified mutations in patients with recurrent hydatidiform moles (RHMs). KH stands for K homology domain. Mutations found in patients with two defective alleles are in rectangles with continuous border. The dashed border rectangle corresponds to a single heterozygous variant found in one patient and not seen in controls. The c.17_20delGGTT and c.349+1G>A mutations were identified in the present study.

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