Varaico: Literature-Extracted Genetic Variants

Gene:LGR4
Variant:p.I96V
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LGR4

NM_018490.5:p.I96V

Associated Papers

Generation and characterisation of seven induced pluripotent stem cell lines from two patients with Parkinson's disease carrying the pathological variant c.1087G>T of the LGR4 gene.

Podvysotskaya VS et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2025

The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.

Gervas P et al.

Molecular Biology Reports, 2024

Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Gervas P et al.

Bulletin of Experimental Biology and Medicine, 2024

LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.

Zhang N et al.

Endocrine Reviews, 2023

Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.

Lucas C et al.

The Journal of Clinical Investigation, 2023

36538378 (PubMed )
Supplement: jci-133-164915-s007.pdf

LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.

Mancini A et al.

Jci Insight, 2020

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