Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.N263S
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EHMT1

NM_024757.5:p.N263S

Associated Papers

In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Lenders M et al.

Molecular Therapy. Methods & Clinical Development, 2020

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

Lukas J et al.

International Journal of Molecular Sciences, 2020

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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."