Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.E385V
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ESR1

NM_000125.4:p.E385V

Associated Papers

Identification of a novel ESR1 mutation in a Chinese PCOS woman with estrogen insensitivity in IVF treatment.

Liu F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

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

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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."