Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.S58S
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GHR

NM_000163.5:p.S58S

Associated Papers

Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children.

Carrascosa A et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Growth hormone insensitivity syndrome associated with syringomyelia and type I Chiari malformation.

Takagi J et al.

Internal Medicine (tokyo, Japan), 2003

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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."