Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.T279S
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G6PD

NM_001360016.2:p.T279S

Associated Papers

Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.

Nannelli C et al.

British Journal of Haematology, 2023

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

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

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.

Gao J et al.

Human Heredity, 2020

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.

Fu C et al.

Scientific Reports, 2018

Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.

Maciag M et al.

Acta Biochimica Polonica, 2007

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