Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.I62T
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GH1

NM_000515.5:p.I62T

Associated Papers

Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature.

Li R et al.

Endocrine, 2025

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

Madeira JL et al.

European Journal of Endocrinology, 2016

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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."