Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.G989E
Back to variants list

ABCC9

NM_020297.4:p.G989E

Associated Papers

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

Kleinendorst L et al.

American Journal of Medical Genetics. Part A, 2026

Kir6.1 and SUR2B in Cantú syndrome.

McClenaghan C et al.

American Journal of Physiology. Cell Physiology, 2022

ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.

Singareddy SS et al.

The Journal of Physiology, 2022

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Tessadori F et al.

Disease Models & Mechanisms, 2018

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

McClenaghan C et al.

The Journal of Biological Chemistry, 2018

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."