Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S97_N98Splc
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GH1

NM_000515.5:p.S97_N98Splc

Associated Papers

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

Radovick S et al.

Hormone Research in Paediatrics, 2025

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

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."