Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.A300_V304delFs
Back to variants list

EPHB2

NM_017449.5:p.A300_V304delFs

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."