FIGURE

Figure EV2

ID

ZDB-FIG-210512-50

Publication

Sofou et al., 2021 - Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ EMBO Mol. Med.