Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.P504S
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FSHR

NM_000145.4:p.P504S

Associated Papers

The Impact of FSHR Mutations on Female Ovarian Function and Pregnancy Outcomes: A Systematic Review.

Qu Z et al.

Biology of Reproduction, 2025

Rescue of Cell Surface Expression and Signaling of Mutant Follicle-Stimulating Hormone Receptors.

Hanyroup S et al.

Endocrinology, 2021

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 2021

Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency.

Liu H et al.

Molecular and Cellular Endocrinology, 2019

Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome.

He WB et al.

Reproductive Biomedicine Online, 2019

[Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene].

Li W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."