Even pore-localizing missense variants at highly conserved...

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Even pore-localizing missense variants at highly conserved sites in KCNQ1 -encoded K v 7.1 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

Paquin, Ashley, Ye, Dan, Tester, David J., Kapplinger, Jamie D., Zimmermann, Michael T., Ackerman, Michael J.
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Language:
english
Journal:
HeartRhythm Case Reports
DOI:
10.1016/j.hrcr.2017.04.006
Date:
December, 2017
File:
PDF, 1.19 MB
english, 2017
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