Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.S285N
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H6PD

NM_004285.4:p.S285N

Associated Papers

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

Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.

Dell'edera D et al.

Molecular Medicine Reports, 2012

Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency.

Pietrapertosa A et al.

Haematologica, 2001

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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."