Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R733H
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SEMA3A

NM_006080.3:p.R733H

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

Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.

Li J et al.

Frontiers in Endocrinology, 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

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

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."