Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.K315_E316Splc
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GHR

NM_000163.5:p.K315_E316Splc

Associated Papers

A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.

Giannakopoulos A et al.

Hormone Research in Paediatrics, 2024

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

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Storr HL et al.

Endocrine Reviews, 2019

Growth Hormone Receptor Mutations Related to Individual Dwarfism.

Lin S et al.

International Journal of Molecular Sciences, 2018

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

Vairamani K et al.

Journal of the Endocrine Society, 2017

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