Varaico: Literature-Extracted Genetic Variants

Gene:KISS1R
Variant:p.A287E
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KISS1R

NM_032551.5:p.A287E

Associated Papers

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

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

Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency.

Shimizu K et al.

Journal of the Endocrine Society, 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

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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."