Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ3
Variant:p.L168R
Back to variants list

KCNJ3

NM_002239.4:p.L168R

Associated Papers

[Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases].

Chen J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.

Zheng FF et al.

Hypertension (dallas, Tex. : 1979), 2015

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Kuppusamy M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Role of KCNJ5 in familial and sporadic primary aldosteronism.

Mulatero P et al.

Nature Reviews. Endocrinology, 2013

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."