Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.L13P
Back to variants list

EPHB2

NM_017449.5:p.L13P

Associated Papers

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

Hannan FM et al.

Clinical Endocrinology, 2010

Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor.

Lu JY et al.

The Journal of Pharmacology and Experimental Therapeutics, 2009

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."