Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E730Splc
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GAA

NM_000152.5:p.E730Splc

Associated Papers

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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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."