Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.D46delFs
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PHKA2

NM_000292.3:p.D46delFs

Associated Papers

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

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.

Choi R et al.

Bmc Medical Genetics, 2016

Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.

Lau CK et al.

Molecular Genetics and Metabolism, 2011

A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.

Park KJ et al.

Annals of Clinical and Laboratory Science, 2011

[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."