Varaico: Literature-Extracted Genetic Variants

Gene:AK1
Variant:p.E46del1
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AK1

NM_000476.3:p.E46del1

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

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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."