Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.R230H
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TACR3

NM_001059.3:p.R230H

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

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.

Valsassina R et al.

Clinical Case Reports, 2020

Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism.

Zhou C et al.

Fertility and Sterility, 2018

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Francou B et al.

Plos One, 2011

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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."