Varaico: Literature-Extracted Genetic Variants

Gene:KISS1R
Variant:p.P196H
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KISS1R

NM_032551.5:p.P196H

Associated Papers

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

KISS1R polymorphism rs587777844 (Tyr313His) is linked to female infertility.

Siahpoosh Z et al.

British Journal of Biomedical Science, 2021

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 4_Human_Cleft_Lip__Table_S4__Significant_R2.xlsx › Multiple_Genes_Significant

Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty.

Oh YJ et al.

Journal of Korean Medical Science, 2017

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations

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

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

Xu H et al.

Biomed Research International, 2015

Molecular biology of the kisspeptin receptor: signaling, function, and mutations.

Bianco SD et al.

Advances in Experimental Medicine and Biology, 2013

New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.

Teles MG et al.

Molecular and Cellular Endocrinology, 2011

KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.

Bianco SD et al.

Endocrinology, 2011

GPR54 polymorphisms in Chinese girls with central precocious puberty.

Luan X et al.

Neuroendocrinology, 2007

[Kisspeptin and leptin in the regulation of fertility].

Pankov YA

Molekuliarnaia Biologiia, 0

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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."