IDUA c.898G>A ;(p.A300T)
Variant ID: 4-995875-G-A
NM_000203.3(IDUA):c.898G>A;(p.A300T)
This variant was identified in 4 publications
Variant-Specific Resource Links:
Publications:
Mucopolysaccharidosis Type I.
Diagnostics (Basel, Switzerland)
Kubaski, Francyne F; de Oliveira Poswar, Fabiano F; Michelin-Tirelli, Kristiane K; Matte, Ursula da Silveira UDS; Horovitz, Dafne D DD; Barth, Anneliese Lopes AL; Baldo, Guilherme G; Vairo, Filippo F; Giugliani, Roberto R
Publication Date: 2020-03-16
Variant appearance in text: IDUA: Ala300Thr
Variant Present in the following documents:
- Main text
- diagnostics-10-00161.pdf
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Italian Journal Of Pediatrics
Filocamo, Mirella M; Tomanin, Rosella R; Bertola, Francesca F; Morrone, Amelia A
Publication Date: 2018-11-16
Variant appearance in text: IDUA: Ala300Thr
Variant Present in the following documents:
- Main text
- 13052_2018_Article_553.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: A300T; rs121965030
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: A300T
Variant Present in the following documents:
- 12859_2015_673_MOESM1_ESM.xls, sheet 4