Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.R103C
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GH1

NM_000515.5:p.R103C

Associated Papers

Mapping the Functional Epitopes of Human Growth Hormone: Integrating Structural and Evolutionary Data with Clinical Variants.

Verma S et al.

Current Issues in Molecular Biology, 2025

A Novel Variant in an Intron Splicing Enhancer Associated with Familial Growth Hormone Deficiency.

Radovick S et al.

Hormone Research in Paediatrics, 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

The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.

Rotwein P

Endocrinology, 2017

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."