Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.W157*
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GHR

NM_000163.5:p.W157*

Associated Papers

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

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

Arman A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008

Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.

Baumann G

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002

Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction.

Rosenbloom AL

Endocrine, 2000

Relationship between phenotype and genotype in growth hormone insensitivity syndrome.

Woods KA et al.

Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999

Phenotype: genotype relationships in growth hormone insensitivity syndrome.

Woods KA et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

Sobrier ML et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

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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."