Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.T397_D398insFs
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GHR

NM_000163.5:p.T397_D398insFs

Associated Papers

STAT5b: A master regulator of key biological pathways.

Smith MR et al.

Frontiers in Immunology, 2022

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

Storr HL et al.

Endocrine Reviews, 2019

Current issues on molecular diagnosis of GH signaling defects.

Feigerlova E et al.

Endocrine Development, 2013

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

STAT5b deficiency: lessons from STAT5b gene mutations.

Hwa V et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.

Savage MO et al.

Frontiers in Endocrinology, 2011

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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."