Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.N418S
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SEMA3A

NM_006080.3:p.N418S

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

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

Dai W et al.

International Journal of Endocrinology, 2021

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

Budny B et al.

Frontiers in Endocrinology, 2020

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.

Känsäkoski J et al.

Pediatric Research, 2014

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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."