Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.P300_P304delFs
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GHR

NM_000163.5:p.P300_P304delFs

Associated Papers

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

Derr MA et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.

Baumann G

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002

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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."