Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.Q525*
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LHCGR

NM_000233.4:p.Q525*

Associated Papers

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

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Rjiba K et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

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

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

Ben Hadj Hmida I et al.

Fertility and Sterility, 2016

Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Suzuki E et al.

Reproductive Medicine and Biology, 0

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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."