Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.S1126*
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PHKA2

NM_000292.3:p.S1126*

Associated Papers

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.

Zhu Q et al.

Medicine, 2019

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.

Fu J et al.

Bmc Medical Genetics, 2019

Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.

Zhang J et al.

Gene, 2017

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A et al.

Molecular Genetics and Metabolism, 2014

[The clinical and pathological characteristics of a patient with glycogen storage disease IV].

Yao S et al.

Zhonghua Nei Ke Za Zhi, 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."