Varaico: Literature-Extracted Genetic Variants

Gene:EPG5
Variant:p.E1555fs
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EPG5

NM_020964.3:p.E1555fs

Associated Papers

Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.

Aggarwal S et al.

American Journal of Medical Genetics. Part A, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."