Publications:

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Human Genetics

Smits, Jeroen J JJ; Oostrik, Jaap J; Beynon, Andy J AJ; Kant, Sarina G SG; de Koning Gans, Pia A M PAM; Rotteveel, Liselotte J C LJC; Klein Wassink-Ruiter, Jolien S JS; Free, Rolien H RH; Maas, Saskia M SM; van de Kamp, Jiddeke J; Merkus, Paul P; , ; Koole, Wouter W; Feenstra, Ilse I; Admiraal, Ronald J C RJC; Lanting, Cornelis P CP; Schraders, Margit M; Yntema, Helger G HG; Pennings, Ronald J E RJE; Kremer, Hannie H

Publication Date: 2019-01

Variant appearance in text: ATP2B2: 1998C>A

PubMed Link: 30535804

Variant Present in the following documents:

• Main text
• 439_2018_Article_1965.pdf

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