Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.Q256K
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GHR

NM_000163.5:p.Q256K

Associated Papers

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.

Binder G et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."