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Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree

BACKGROUND: The enzyme NOP2/Sun RNA methyltransferase 2 (NSUN2) catalyzes the methylation of cytosine to 5‐methylcytosine (m5C) at position 34 of tRNA(Leu; CAA) precursors containing introns that play a vital role in spindle assembly during mitosis and chromosome segregation. Biallelic variants in t...

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Detalles Bibliográficos
Autores principales:	Sun, Songyang, Chen, Lin, Wang, Yuchuan, Wang, Jian, Li, Niu, Wang, Xike
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767538/ https://www.ncbi.nlm.nih.gov/pubmed/33002343 http://dx.doi.org/10.1002/mgg3.1518

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