Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.T51I
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G6PD

NM_001360016.2:p.T51I

Associated Papers

Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.

Huang Z et al.

Annals of Laboratory Medicine, 2024

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.

Geck RC et al.

American Journal of Human Genetics, 2023

36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants

[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

Li H et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.

Shen S et al.

Frontiers in Genetics, 2022

Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C.

Zhang H et al.

Annals of Translational Medicine, 2021

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

Liu Z et al.

Human Mutation, 2020

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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."