Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.R283W
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FSHR

NM_000145.4:p.R283W

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

A FSHR missense variant associated with polycystic ovary syndrome in an Iranian family with multiple affected sisters.

Behrafigh M et al.

Molecular Biology Reports, 2025

Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.

Li XF et al.

Reproductive Biomedicine Online, 2025

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

39000354 (PubMed )
Supplement: ijms-25-07248-s001.zip › supplementary_tables.xlsx › Table_S2

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Crespo RP et al.

Journal of the Endocrine Society, 2022

Utilization of in vitro maturation in cases with a FSH receptor mutation.

Benammar A et al.

Journal of Assisted Reproduction and Genetics, 2021

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Rossetti R et al.

Frontiers in Endocrinology, 2021

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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."