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. Author manuscript; available in PMC: 2025 Jul 15.
Published in final edited form as: Genet Med. 2025 Jun 23;27(9):101506. doi: 10.1016/j.gim.2025.101506

Figure 3. Molecular mechanisms of ELFN1 disruption caused by Pro50His, Val591fs, and Gln508fs variants.

Figure 3.

A) Synaptic localization of Elfn1. B) Representative Western Blots of surface and total protein expression level of c.149C>A p.(Pro50His) (P50H), c.1767del p.(Val591CysfsTer93) (Fs591), and c.1522del p.(Gln508SerfsTer176) (Fs508) ELFN1. C) Quantification of the ratio of surface to total protein expression level. D) Representative confocal images showing the WT, Pro50His, Val591fs, and Gln508fs ELFN1 expressed in HEK293 cells.