Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.S84I
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GHSR

NM_198407.2:p.S84I

Associated Papers

Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.

Rezende RC et al.

European Journal of Endocrinology, 2025

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

Wit JM et al.

Hormone Research in Paediatrics, 2021

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.

Barroso PS et al.

Neuroendocrinology, 2020

Ghrelin and Growth.

Perchard R et al.

Endocrine Development, 2017

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

Yin Y et al.

International Journal of Molecular Sciences, 2014

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

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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."