Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.T286_P287Splc
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GAA

NM_000152.5:p.T286_P287Splc

Associated Papers

Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.

Zhang Y et al.

World Journal of Clinical Cases, 2022

A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

Zhu D et al.

Frontiers in Pharmacology, 2022

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki K et al.

Journal of Human Genetics, 2019

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."