Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.C64G
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GHRHR

NM_000823.4:p.C64G

Associated Papers

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S et al.

Frontiers in Endocrinology, 2023

Structural basis for activation of the growth hormone-releasing hormone receptor.

Zhou F et al.

Nature Communications, 2020

Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.

Birla S et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.

Demirbilek H et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."