Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.I418S
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FSHR

NM_000145.4:p.I418S

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

The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.

Yoo S et al.

Annals of Pediatric Endocrinology & Metabolism, 2023

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.

Byambaragchaa M et al.

Animal Bioscience, 2022

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

Hanyroup S et al.

Endocrinology, 2021

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

Benammar A et al.

Journal of Assisted Reproduction and Genetics, 2021

A Novel Mutation in the FSH Receptor (I423T) Affecting Receptor Activation and Leading to Primary Ovarian Failure.

Zariñán T et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Pharmacogenomic Biomarkers of Follicle-Stimulating Hormone Receptor Malfunction in Females with Impaired Ovarian Response-A Genetic Survey.

Tafazoli A et al.

Journal of Clinical Medicine, 2021

Novel FSHR variants causing female resistant ovary syndrome.

Khor S et al.

Molecular Genetics & Genomic Medicine, 2020

Genetics of primary ovarian insufficiency.

Rossetti R et al.

Clinical Genetics, 2017

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

França MM et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.

Bramble MS et al.

Human Reproduction (oxford, England), 2016

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.

Katari S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."