A novel NAA10 p.(R83H) variant with impaired...

BMC Medical Genetics 2019 / 12 Vol. 20; Iss. 1

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

Ree, Rasmus, Geithus, Anni Sofie, Tørring, Pernille Mathiesen, Sørensen, Kristina Pilekær, Damkjær, Mads, Lynch, Sally Ann, Arnesen, Thomas
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Volume:
20
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-019-0803-1
Date:
December, 2019
File:
PDF, 2.77 MB
english, 2019
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