Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.D1347delFs
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AGL

NM_000642.3:p.D1347delFs

Associated Papers

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Endo Y et al.

Clinical Chemistry and Laboratory Medicine, 2009

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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."