IDUA c.1102C>T ;(p.R368C)

Variant ID: 4-996186-C-T

NM_000203.3(IDUA):c.1102C>T;(p.R368C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs754681846
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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: R368C; rs754681846
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page



Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Nature Communications
Ma, Xiaotu X; Edmonson, Michael M; Yergeau, Donald D; Muzny, Donna M DM; Hampton, Oliver A OA; Rusch, Michael M; Song, Guangchun G; Easton, John J; Harvey, Richard C RC; Wheeler, David A DA; Ma, Jing J; Doddapaneni, HarshaVardhan H; Vadodaria, Bhavin B; Wu, Gang G; Nagahawatte, Panduka P; Carroll, William L WL; Chen, I-Ming IM; Gastier-Foster, Julie M JM; Relling, Mary V MV; Smith, Malcolm A MA; Devidas, Meenakshi M; Guidry Auvil, Jaime M JM; Downing, James R JR; Loh, Mignon L ML; Willman, Cheryl L CL; Gerhard, Daniela S DS; Mullighan, Charles G CG; Hunger, Stephen P SP; Zhang, Jinghui J
Publication Date: 2015-03-19

Variant appearance in text: IDUA: R368C
PubMed Link: 25790293
Variant Present in the following documents:
  • ncomms7604-s3.xls, sheet 1
View BVdb publication page