Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.A60T
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GH1

NM_000515.5:p.A60T

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

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

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

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