Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.A77D
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EPO

NM_000799.4:p.A77D

Associated Papers

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Vlasveld LT et al.

Pharmaceuticals (basel, Switzerland), 2019

Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.

Wallace DF et al.

American Journal of Physiology. Cell Physiology, 2010

Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease.

Lim FL et al.

Blood Cells, Molecules & Diseases, 0

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