Publications:

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.

European Journal Of Human Genetics : Ejhg

Støve, Svein Isungset SI; Blenski, Marina M; Stray-Pedersen, Asbjørg A; Wierenga, Klaas J KJ; Jhangiani, Shalini N SN; Akdemir, Zeynep Coban ZC; Crawford, David D; McTiernan, Nina N; Myklebust, Line M LM; Purcarin, Gabriela G; McNall-Knapp, Rene R; Wadley, Alexandrea A; Belmont, John W JW; Kim, Jeffrey J JJ; Lupski, James R JR; Arnesen, Thomas T

Publication Date: 2018-09

Variant appearance in text: TTN: 3002T>C; Met1001Thr

PubMed Link: 29748569

Variant Present in the following documents:

• Main text

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