Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.C530W
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ESR1

NM_000125.4:p.C530W

Associated Papers

Mutational analysis of cysteine residues within the hormone-binding domain of the human estrogen receptor identifies mutants that are defective in both DNA-binding and subcellular distribution.

Neff S et al.

Molecular Endocrinology (baltimore, Md.), 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."