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NAA10-related syndrome

NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females. Al...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Exp Mol Med
Päätekijät: Wu, Yiyang, Lyon, Gholson J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6063861/
https://ncbi.nlm.nih.gov/pubmed/30054457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s12276-018-0098-x
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