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. 2012 Dec 7;91(6):1135–1143. doi: 10.1016/j.ajhg.2012.10.009

Figure 1.

Figure 1

Diagram of the ISPD and TMEM5 Exon-Intron Gene Structure

All the pathogenic changes identified in this study (bold) and in two previous ISPD studies, Roscioli et al., 201230 (λ) and Willer et al., 201231 (λ λ) are included.