Bibliome.ai browser hg19
IDUA c.536C>G ;(p.T179R)
Variant ID: 4-995298-C-G
NM_000203.3(IDUA ):c.536C>G;(p.T179R)
This variant was identified in 6 publications
Variant-Specific Resource Links:
Publications:
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: IDUA: 536C>G; Thr179Arg
Variant Present in the following documents:
41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy.
Frontiers In Pediatrics
Li, Ying Y; Liu, Deyun D; Yu, Yue Y
Publication Date: 2022
Variant appearance in text: IDUA: 536C>G
Variant Present in the following documents:
Main text
fped-10-823044.pdf
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18
Variant appearance in text: rs776098539
Variant Present in the following documents:
13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: IDUA: 536C>G
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Journal Of Medical Genetics
Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y
Publication Date: 2020-08
Variant appearance in text: IDUA: 536C>G; T179R
Variant Present in the following documents:
jmedgenet-2019-106377supp005.pdf
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: T179R
Variant Present in the following documents:
Main text
13023_2017_Article_678.pdf