Varaico: Literature-Extracted Genetic Variants

Gene:MNAT1
Variant:p.G230R
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MNAT1

NM_002431.4:p.G230R

Associated Papers

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

Zanella A et al.

British Journal of Haematology, 2006

Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.

Chiarelli LR et al.

Blood, 2005

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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."