Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R617Q
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SEMA3A

NM_006080.3:p.R617Q

Associated Papers

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

Gündüz R et al.

Women & Health, 2024

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.

Al Sayed Y et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.

Saengkaew T et al.

European Journal of Endocrinology, 2021

Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism.

Dai W et al.

International Journal of Endocrinology, 2021

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.

Hou Q et al.

European Journal of Endocrinology, 2020

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.

Dai W et al.

Clinical Genetics, 2020

PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.

Zhao Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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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."