Varaico: Literature-Extracted Genetic Variants

Gene:KISS1
Variant:p.E20K
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KISS1

NM_002256.4:p.E20K

Associated Papers

Genetic Variants in KNDy Pathway Lack Association with Premature Ovarian Insufficiency in Mexican Women: A Sequencing-Based Cohort Study.

Ruiz A et al.

Genes, 2024

The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.

Gündüz R et al.

Women & Health, 2024

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

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

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Influence of KISS1 gene polymorphisms on the risk of polycystic ovary syndrome and its associated variables, in Saudi women.

Daghestani MH et al.

Bmc Endocrine Disorders, 2020

Computational study of putative functional variants in human kisspeptin.

Samadian E et al.

Journal, Genetic Engineering & Biotechnology, 2017

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

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

Zhang Y et al.

Journal of Assisted Reproduction and Genetics, 2015

Polymorphisms rs12998 and rs5780218 in KiSS1 suppressor metastasis gene in Mexican patients with breast cancer.

Quevedo EG et al.

Disease Markers, 2015

Mutation of kisspeptin 1 gene in children with precocious puberty in isfahan city.

Mazaheri A et al.

International Journal of Preventive Medicine, 2015

DNA polymorphisms of the KiSS1 3' untranslated region interfere with the folding of a G-rich sequence into G-quadruplex.

Huijbregts L et al.

Molecular and Cellular Endocrinology, 2012

KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.

Ko JM et al.

Endocrine Journal, 2010

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

Semple RK et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."