Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.Q474R
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GHR

NM_000163.5:p.Q474R

Associated Papers

STAT5b: A master regulator of key biological pathways.

Smith MR et al.

Frontiers in Immunology, 2022

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.

Domené S et al.

Cells, 2021

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Hwa V

Molecular and Cellular Endocrinology, 2021

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

Storr HL et al.

Endocrine Reviews, 2019

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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."