Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.G251Splc
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GHRHR

NM_000823.4:p.G251Splc

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

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

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

Soneda A et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2013

Molecular and clinical aspects of GHRH receptor mutations.

Corazzini V et al.

Endocrine Development, 2013

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

Alatzoglou KS et al.

Nature Reviews. Endocrinology, 2010

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.

Wang Q et al.

Molecular and Cellular Endocrinology, 2009

Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.

Baumann G

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002

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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."