Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R730Q
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SEMA3A

NM_006080.3:p.R730Q

Associated Papers

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

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Lippincott MF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome.

Shu M et al.

International Journal of Endocrinology, 2022

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).

Budny B et al.

Frontiers in Endocrinology, 2020

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

Hanchate NK et al.

Plos Genetics, 2012

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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."