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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
Bauer, Christiane K., Schneeberger, Pauline E., Kortüm, Fanny, Altmüller, Janine, Santos-Simarro, Fernando, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W.Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2019.04.012
Date:
May, 2019
File:
PDF, 2.46 MB
english, 2019