Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.V136I
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GH1

NM_000515.5:p.V136I

Associated Papers

GH1 gene polymorphism in Polish children and adolescents with short stature - reanalysis based on diverse growth hormone secretion.

Majewska KA et al.

Endocrine, 2026

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

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

37540677 (PubMed )
Supplement: pone.0288336.s005.xlsx › Supplementary_Table_IV

Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.

Majewska KA et al.

Endocrine, 2020

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF et al.

Ebiomedicine, 2018

30266296 (PubMed )
Supplement: mmc1.docx

Variants in the GH-IGF axis confer susceptibility to lung cancer.

Rudd MF et al.

Genome Research, 2006

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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."