Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.R237W
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GHSR

NM_198407.2:p.R237W

Associated Papers

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Punt LD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.

Peirone S et al.

Frontiers in Oncology, 2024

39421445 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

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

Wit JM et al.

Hormone Research in Paediatrics, 2021

Overdominance effect of the bovine ghrelin receptor (GHSR1a)-DelR242 locus on growth in Japanese Shorthorn weaner bulls: heterozygote advantage in bull selection and molecular mechanisms.

Komatsu M et al.

G3 (bethesda, Md.), 2014

Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population.

Hess O et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Spectrum of insulin-like growth factor deficiency.

Wit JM et al.

Endocrine Development, 2012

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

Pugliese-Pires PN et al.

European Journal of Endocrinology, 2011

Ghrelin plasma levels in patients with idiopathic short stature.

Iñiguez G et al.

Hormone Research in Paediatrics, 2011

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

Inoue H et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Genetic causes and treatment of isolated growth hormone deficiency-an update.

Alatzoglou KS et al.

Nature Reviews. Endocrinology, 2010

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

Pantel J et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."