Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: HeartRhythm Case Reports - Volume 4, Issue 2, February 2018, Pages 37-44

Ashley BA, Dan MD, David J. BS, Jamie D. BA, Michael T. PhD, Michael J. MD, PhD,