Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.E122_E123Splc
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GHRHR

NM_000823.4:p.E122_E123Splc

Associated Papers

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

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

Marui S et al.

Hormone Research in Paediatrics, 2012

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

Osorio MG et al.

The Journal of Clinical Endocrinology and Metabolism, 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."