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. Author manuscript; available in PMC: 2016 Sep 10.
Published in final edited form as: Gene. 2015 Jun 12;569(1):1–6. doi: 10.1016/j.gene.2015.06.029

Fig. 2.

Fig. 2

Variants and a frameshift mutation in NPPA. The human NPPA gene consists of three exons and two introns. NPPA variants in the 5’ promoter region, exons 1 and 3, and the 3’ untranslated region are indicated. A frameshift mutation abolishes the stop codon, creating a mutant ANP with 12 extra amino acids at the C-terminus (ANP+12aa).