Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.F1039S
Back to variants list

ABCC9

NM_020297.4:p.F1039S

Associated Papers

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Grange DK et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.

Huang Y et al.

Circulation. Arrhythmia and Electrophysiology, 2019

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

Cooper PE et al.

The Journal of General Physiology, 2015

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M et al.

Nature Genetics, 2012

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."