Varaico: Literature-Extracted Genetic Variants

Gene:AK1
Variant:p.Y164C
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AK1

NM_000476.3:p.Y164C

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

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Abrusci P et al.

Experimental Hematology, 2007

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

Reznik BIa et al.

Problemy Gematologii I Perelivaniia Krovi, 1972

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.

Fermo E et al.

Blood Cells, Molecules & Diseases, 0

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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."