Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.R578fs
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GHR

NM_000163.5:p.R578fs

Associated Papers

[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].

Diniz ET et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

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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."