Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.Y86D
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GHR

NM_000163.5:p.Y86D

Associated Papers

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.

Bitarafan F et al.

Bmc Endocrine Disorders, 2023

Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.

Li R et al.

Frontiers in Endocrinology, 2021

Growth Hormone Receptor Mutations Related to Individual Dwarfism.

Lin S et al.

International Journal of Molecular Sciences, 2018

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].

Diniz ET et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.

Shevah O et al.

The Israel Medical Association Journal : Imaj, 2004

IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.

Laron Z et al.

Mutation Research. Reviews in Mutation Research, 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."