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

Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review.

Li Q et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 0

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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."