Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3
Variant:p.R331C
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AMPD3

NM_001025389.2:p.R331C

Associated Papers

A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

Yamada Y et al.

Human Mutation, 2001

Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.

Yamada Y et al.

Advances in Experimental Medicine and Biology, 2000

Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.

Yamada Y et al.

Human Molecular Genetics, 1994

Gene mutations for human erythrocyte AMP deaminase deficiency.

Yamada Y et al.

Advances in Experimental Medicine and Biology, 1994

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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."