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. 2024 Feb 21;111(3):529–543. doi: 10.1016/j.ajhg.2024.02.001

Figure 1.

Figure 1

Summary of DENND5B variants and family pedigrees

(A) Schematic representation of DENND5B (GenBank: NP_659410.3) showing the localization of the variants detected in the reported cohort. Most variants lie within or in close proximity to the tripartite DENN domain or the RUN1 domain.

(B) Pedigrees of the reported families showing the segregation of DENND5B variants (GenBank: NM_144973.4). Abbreviations: DENN, differentially expressed in neoplastic vs. normal cells; NA, not available; PLAT, polycystin-1, lipoxygenase, alpha-toxin; RUN, RPIP8 (RaP2-interacting protein 8), UNC-14, and NESCA.