Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.H337Q
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GHR

NM_000163.5:p.H337Q

Associated Papers

A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M et al.

Clinical Endocrinology, 2016

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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."