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A Natural History of <i>NAA15</i> -related Neurodevelopmental Disorder Through Adolescence

2024-04-22

Abstract excerpt

NAA15 is a member of the NatA N-terminal acetyltransferase complex, which also includes the NAA10 enzymatic sub-unit. Individuals with variants in the NAA15 coding region develop NAA15 -related neurodevelopmental syndrome, which presents with a wide array of manifestations that affect the heart, brain, musculoskeletal system, and behavioral and cognitive development. We tracked a cohort of 27 participants (9 fem...

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Identifiers and source

Literature Corpus work
7a91fc1b-b910-594f-b6b8-b8fc5d31e5bc
DOI
10.1101/2024.04.20.24306120
Open publication

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A Natural History of <i>NAA15</i> -related Neurodevelopmental Disorder Through AdolescenceDOI 10.1101/2024.04.20.24306120
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