Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

Overview of attention for article published in BMC Medical Genomics, July 2020

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RT @NAT_machinery: Novel NAA10 variant causing delayed motor and language development, disturbed behavior with hyperactivity and restlessne…

Great study on the importance of N-terminal protein acetylation by the Arnesen lab!

RT @NAT_machinery: Novel NAA10 variant causing delayed motor and language development, disturbed behavior with hyperactivity and restlessne…

RT @NAT_machinery: Novel NAA10 variant causing delayed motor and language development, disturbed behavior with hyperactivity and restlessne…

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