Varaico: Literature-Extracted Genetic Variants

Gene:FSHB
Variant:p.R115*
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FSHB

NM_001382289.1:p.R115*

Associated Papers

Co-occurrence of congenital isolated FSH deficiency and androgen-secreting steroid cell tumour in a Chinese female - Intermittent menses in a patient with primary amenorrhoea.

Tseung JSB et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

The Genetic Backdrop of Hypogonadotropic Hypogonadism.

Szeliga A et al.

International Journal of Molecular Sciences, 2021

The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.

Kalveram L et al.

International Journal of Molecular Sciences, 2019

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

Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility.

Zheng J et al.

European 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."