Varaico: Literature-Extracted Genetic Variants

Gene:KISS1
Variant:p.P46H
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KISS1

NM_002256.4:p.P46H

Associated Papers

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

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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."