Varaico: Literature-Extracted Genetic Variants

Gene:GNRH1
Variant:p.R31H
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GNRH1

NM_001083111.2:p.R31H

Associated Papers

GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.

Patil VA et al.

Neuroendocrinology, 2022

Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.

Brachet C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.

Mengen E et al.

Hormone Research in Paediatrics, 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."