Varaico: Literature-Extracted Genetic Variants

Gene:LHB
Variant:p.A18T
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LHB

NM_000894.3:p.A18T

Associated Papers

FOLLICLE-STIMULATING HORMONE RECEPTOR MUTATIONS IN SUDANESE WOMEN: A STUDY ON POLYCYSTIC OVARY SYNDROME.

Mohamed W et al.

Georgian Medical News, 2025

Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.

Tikhonova EB et al.

Journal of Molecular Biology, 2019

Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism.

Yang X et al.

Journal of Assisted Reproduction and Genetics, 2018

Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome.

Batista MC et al.

Gene, 2014

A novel Ala(-3)Thr mutation in the signal peptide of human luteinizing hormone beta-subunit: potentiation of the inositol phosphate signalling pathway and attenuation of the adenylate cyclase pathway by recombinant variant hormone.

Jiang M et al.

Molecular Human Reproduction, 2002

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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."