Blar i Department of Biological Sciences på forfatter "Azzarello-Burri, Silvia"
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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Popp, Bernt; Støve, Svein Isungset; Endele, Sabine; Myklebust, Line Merethe; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André (Peer reviewed; Journal article, 2015)Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, ...