Medical Xpress· Medical Xpress - Genetics·· 20 hours agoPickScore64
Gene variants that can cause sudden death mapped
In brief
A study led by Vanderbilt University Medical Center and published in Circulation used a high-throughput multiplexed assay of variant effect (MAVE) to map the functional effects of variants across the KCNQ1 potassium channel gene.
Why it matters
MAVE provides functional evidence for thousands of KCNQ1 variants, giving variants of uncertain significance data usable in long QT syndrome interpretation.
Source: Medical Xpress · medicalxpress.com