Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.L903del1
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EPHA3

NM_005233.6:p.L903del1

Associated Papers

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

Ebrahim HY et al.

Journal of Inherited Metabolic Disease, 2012

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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."