Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.R229G
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GHR

NM_000163.5:p.R229G

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

33912130 (PubMed )
Supplement: Table_1.docx

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII-

[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

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

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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."