Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.G71C
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GHRHR

NM_000823.4:p.G71C

Associated Papers

Clinical and molecular genetic analysis of children with severe short stature due to isolated growth hormone deficiency: insights from a South Indian cohort and predictors of growth response.

Dhivya S et al.

Pituitary, 2025

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

Ahmad S et al.

Frontiers in Endocrinology, 2023

Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.

Sundralingam T et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2017

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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."