Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.R4Q
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GHRHR

NM_000823.4:p.R4Q

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

Advances in differential diagnosis and management of growth hormone deficiency in children.

Hage C et al.

Nature Reviews. Endocrinology, 2021

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Cohen E et al.

Human Mutation, 2019

Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.

Gregory LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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

Inoue H et al.

Clinical 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."