Varaico: Literature-Extracted Genetic Variants

Gene:KISS1
Variant:p.N115K
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KISS1

NM_002256.4:p.N115K

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Review of human genetic and clinical studies directly relevant to GnRH signalling.

Seminara SB et al.

Journal of Neuroendocrinology, 2022

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

Computational study of putative functional variants in human kisspeptin.

Samadian E et al.

Journal, Genetic Engineering & Biotechnology, 2017

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 in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients.

Zhang Y et al.

Journal of Assisted Reproduction and Genetics, 2015

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.

Gürbüz F et al.

Journal of Clinical Research in Pediatric Endocrinology, 2012

Inactivating KISS1 mutation and hypogonadotropic hypogonadism.

Topaloglu AK et al.

The New England Journal of Medicine, 2012

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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."