Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.D374N
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ESR1

NM_000125.4:p.D374N

Associated Papers

Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.

Delcour C et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

Identification of charged residues in an N-terminal portion of the hormone-binding domain of the human estrogen receptor important in transcriptional activity of the receptor.

Pakdel F et al.

Molecular Endocrinology (baltimore, Md.), 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."