Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.N400S
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LHCGR

NM_000233.4:p.N400S

Associated Papers

Successful Live Birth Outcome in A Patient with Empty Follicle Syndrome: A Case Report and Literature Review.

Hong F et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.

Barnabas R et al.

Endocrine Connections, 2024

Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.

Xu Y et al.

The Journal of Obstetrics and Gynaecology Research, 2023

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 2021

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

Yan M et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

[Clinical features and INS mutations of an infant with neonatal diabetes mellitus].

Luo YF et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.

Zielen AC et al.

Clinical Genetics, 2018

Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development.

Chen C et al.

Human Reproduction (oxford, England), 2018

Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.

Ulloa-Aguirre A et al.

Handbook of Experimental Pharmacology, 2018

Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.

Newton CL et al.

Endocrinology, 2016

Gonadotropin resistance.

Latronico AC et al.

Endocrine Development, 2013

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Yariz KO et al.

Fertility and Sterility, 2011

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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."