Varaico: Literature-Extracted Genetic Variants

Gene:SESTD1
Variant:p.D404N
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SESTD1

NM_178123.5:p.D404N

Associated Papers

[Enzyme replacement therapy in the infantile form of Pompe disease: Argentinean experience in a seven-year follow up case].

Amartino HM et al.

Archivos Argentinos De Pediatria, 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."