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BioMed Central, BMC Medical Genetics, 1(20), 2019

DOI: 10.1186/s12881-019-0803-1

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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Journal article published in 2019 by Rasmus Ree ORCID, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Geithus As, Anni Sofie Geithus, Tørring Pm, Sørensen Kp, Mads Damkjær, Study Ddd, Sally Ann Lynch, Lynch Sa, Thomas Arnesen ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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