Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.I517_D518Splc
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GAA

NM_000152.5:p.I517_D518Splc

Associated Papers

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

Fu L et al.

Gene, 2014

[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].

Fu LJ et al.

Zhonghua Yi Xue Za Zhi, 2013

[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].

Qiu JJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007

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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."