Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.P59S
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GHR

NM_000163.5:p.P59S

Associated Papers

Mapping the Functional Epitopes of Human Growth Hormone: Integrating Structural and Evolutionary Data with Clinical Variants.

Verma S et al.

Current Issues in Molecular Biology, 2025

Short Stature due to Bioinactive Growth Hormone (Kowarski Syndrome).

Karaoglan M

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2023

miR27a, a fine-tuning molecule, interacts with growth hormone (GH) signaling and ornithine decarboxylase (ODC) via targeting STAT5.

Coker-Gurkan A et al.

Amino Acids, 2022

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

Wit JM et al.

Hormone Research in Paediatrics, 2021

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

Petkovic V et al.

European Journal of Endocrinology, 2013

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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."