Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report
The NAA10 gene encodes the catalytic subunit of the N-terminal acetyltransferase protein complex A (NatA), which is supposed to acetylate approximately 40% of the human proteins. After the advent of next-generation sequencing, more variants in the NAA10 gene and Ogden syndrome (OMIM# 300855) have be...
Bewaard in:
| Hoofdauteurs: | , |
|---|---|
| Formaat: | Boek |
| Gepubliceerd in: |
Frontiers Media S.A.,
2023-06-01T00:00:00Z.
|
| Onderwerpen: | |
| Online toegang: | Connect to this object online. |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|
Internet
Connect to this object online.3rd Floor Main Library
| Plaatsingsnummer: |
A1234.567 |
|---|---|
| Kopie 1 | Beschikbaar |