Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.E307A
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EGF

NM_001963.6:p.E307A

Associated Papers

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Calado J et al.

Bmc Medical Genetics, 2005

Inactivation of erythropoietin receptor function by point mutations in a region having homology with other cytokine receptors.

Miura O et al.

Molecular and Cellular Biology, 1993

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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."