Varaico: Literature-Extracted Genetic Variants

Gene:KISS1R
Variant:p.S125L
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KISS1R

NM_032551.5:p.S125L

Associated Papers

Evidence for human kisspeptin receptor homo-oligomerisation and its functional relevance.

Chakraborty AP et al.

Journal of Molecular Endocrinology, 2025

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.

Alzahrani AJ et al.

Case Reports in Pediatrics, 2019

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.

Francou B et al.

Human Reproduction (oxford, England), 2016

Mutations of the KISS1 gene in disorders of puberty.

Silveira LG et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."