Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.S293*
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LHCGR

NM_000233.4:p.S293*

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

Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.

Hassan HA et al.

Hormones (athens, Greece), 2020

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

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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."