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Figure EV2

ID: ZDB-IMAGE-210512-50
Source: Figures for Sofou et al., 2021

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Figure Caption

Figure EV2 Whole‐genome sequencing and mutation prediction

Assembly of whole‐genome sequencing reads, identifying the VPS16 c.2272‐18 variant (in patient A).

Predicted impact by the c.2272‐18C>A variant on splicing, as predicted by algorithms used by Alamut Visual (Interactive Biosoftware). Green bars indicate predicted splice‐acceptor sites.

Acknowledgments

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