Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.C617Y
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LHCGR

NM_000233.4:p.C617Y

Associated Papers

Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring.

Kor Y

Hormones (athens, Greece), 2018

Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis.

Siviero-Miachon AA et al.

Endocrine Research, 2017

Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.

Nagasaki K et al.

Endocrine Journal, 2010

Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.

Athanasoulia AP et al.

Hormones (athens, Greece), 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."