NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
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Title
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
Authors
Keywords
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Journal
Scientific Reports
Volume 5, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-11-02
DOI
10.1038/srep16022
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Related references
Note: Only part of the references are listed.- De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
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- A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
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