Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.V199V
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GHR

NM_000163.5:p.V199V

Associated Papers

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Feigerlova E et al.

Hormone Research in Paediatrics, 2013

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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."