Varaico: Literature-Extracted Genetic Variants

Gene:FSHB
Variant:p.Y76*
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FSHB

NM_001382289.1:p.Y76*

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

FSH β-subunit mutations in two sisters: the first report from the Indian sub-continent and review of previous cases.

Misgar RA et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2019

Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency.

Şimşek E et al.

Hormone Research in Paediatrics, 2016

The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models.

Siegel ET et al.

Reproductive Sciences (thousand Oaks, Calif.), 2013

Pharmacogenetics of follicle-stimulating hormone action.

Laan M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2012

Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.

Nagirnaja L et al.

Molecular and Cellular Endocrinology, 2010

Isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHbeta gene and successful treatment with human menopausal gonadotropin.

Murao K et al.

Fertility and Sterility, 2008

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation.

Lofrano-Porto A et al.

Fertility and Sterility, 2008

Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes.

Berger K et al.

Fertility and Sterility, 2005

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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."