Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.P115L
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GH1

NM_000515.5:p.P115L

Associated Papers

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Aouchiche K et al.

European Journal of Pediatrics, 2025

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

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

Genetic screening of a Dutch population with isolated GH deficiency (IGHD).

de Graaff LC et al.

Clinical Endocrinology, 2009

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."