Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.S219L
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GHR

NM_000163.5:p.S219L

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

A case report and literature review of monoallelic mutation of GHR.

Mitani M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Growth Hormone Receptor Mutations Related to Individual Dwarfism.

Lin S et al.

International Journal of Molecular Sciences, 2018

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

Hattori A et al.

Endocrine Journal, 2017

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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."