Publications
Export 1 results:
[ Author![(Desc)](http://mendelian.org/sites/all/modules/biblio/misc/arrow-desc.png)
Filters: Author is Støve, Svein Isungset and Keyword is Cardiomyopathy, Hypertrophic [Clear All Filters]
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet 26, 1294-1305 (2018).