Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.R138K
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H6PD

NM_004285.4:p.R138K

Associated Papers

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).

He S et al.

Bmc Medical Genomics, 2022

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.

Dongerdiye R et al.

Bmc Medical Genomics, 2021

Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).

Dongerdiye R et al.

Journal of Clinical Pathology, 2019

Mutation analysis in glutaric aciduria type I.

Zschocke J et al.

Journal of Medical Genetics, 2000

[Rare case of hereditary nonspherocytic anemia caused by glyceraldehydephosphate dehydrogenase deficiency in erythrocytes].

Reznik BIa et al.

Problemy Gematologii I Perelivaniia Krovi, 1972

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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."