Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.G152_R153Splc
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GH1

NM_000515.5:p.G152_R153Splc

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

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

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

Pituitary gene mutations and the growth hormone pathway.

Moseley CT et al.

Seminars in Reproductive Medicine, 2000

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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."