Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.K67R
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GH1

NM_000515.5:p.K67R

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

Long-Lasting Growth Hormone Regulated by the Ubiquitin-Proteasome System.

Kim MS et al.

International Journal of Molecular Sciences, 2021

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Babu D et al.

Endocrinology, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

A novel GH1 mutation in a family with isolated growth hormone deficiency type II.

Gucev Z et al.

Hormone Research in Paediatrics, 2012

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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."