IDUA c.763C>T ;(p.R255W)

Variant ID: 4-995640-C-T

NM_000203.3(IDUA):c.763C>T;(p.R255W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


ADAR activation by inducing a syn conformation at guanosine adjacent to an editing site.

Nucleic Acids Research
Doherty, Erin E EE; Karki, Agya A; Wilcox, Xander E XE; Mendoza, Herra G HG; Manjunath, Aashrita A; Matos, Victorio Jauregui VJ; Fisher, Andrew J AJ; Beal, Peter A PA
Publication Date: 2022-10-28

Variant appearance in text: IDUA: R255W
PubMed Link: 36243986
Variant Present in the following documents:
  • Main text
  • gkac897.pdf
View BVdb publication page



Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases
Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB
Publication Date: 2017-07-04

Variant appearance in text: IDUA: R255W; rs750230093
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page