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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

Fig. 3

A schematic representation of exons of the PCDH19 gene is depicted at the top of the figure. The protein domains encoded by the corresponding exons are illustrated below. In red are underlined the two missense variants identified in our patient (p.Val336Met and p.Asp338Glu), both localized in the third extracellular (EC) domain. TM: transmembrane domain; CP: cytoplasmic domain; SP: signal peptide

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