Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.L18delFs
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GAA

NM_000152.5:p.L18delFs

Associated Papers

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).

Chen Q et al.

Biomolecules, 2015

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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."