Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.R204H
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GH1

NM_000515.5:p.R204H

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

The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.

Huang X et al.

Frontiers in Endocrinology, 2024

39435354 (PubMed )
Supplement: Table1.docx

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

Wit JM et al.

Hormone Research in Paediatrics, 2021

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

Alatzoglou KS et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."