IDUA c.1130C>T ;(p.P377L)
Variant ID: 4-996214-C-T
NM_000203.3(IDUA):c.1130C>T;(p.P377L)
This variant was identified in 2 publications
Variant-Specific Resource Links:
Publications:
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: rs546808806
Variant Present in the following documents:
- 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
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: P377L; rs546808806
Variant Present in the following documents:
- Main text
- 13023_2017_Article_678.pdf