Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.D246A
Back to variants list

GHSR

NM_198407.2:p.D246A

Associated Papers

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

Wit JM et al.

Hormone Research in Paediatrics, 2021

Ghrelin and Growth.

Perchard R et al.

Endocrine Development, 2017

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

The growth hormone secretagogue receptor: its intracellular signaling and regulation.

Yin Y et al.

International Journal of Molecular Sciences, 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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."