IDUA c.656G>A ;(p.G219E)
Variant ID: 4-995533-G-A
NM_000203.3(IDUA):c.656G>A;(p.G219E)
This variant was identified in 4 publications
Variant-Specific Resource Links:
Publications:
Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.
Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04
Variant appearance in text: IDUA: 656G>A; Gly219Glu
Variant Present in the following documents:
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: G219E
Variant Present in the following documents:
- Main text
- 13023_2017_Article_678.pdf
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: IDUA: G219E
Variant Present in the following documents:
- 12859_2015_673_MOESM1_ESM.xls, sheet 4
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Nature Chemical Biology
Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN
Publication Date: 2013-11
Variant appearance in text: IDUA: G219E
Variant Present in the following documents:
- NIHMS3970-supplement-1.pdf