IDUA c.1597C>T ;(p.P533S)
Variant ID: 4-997205-C-T
NM_000203.3(IDUA):c.1597C>T;(p.P533S)
This variant was identified in 1 publication
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: rs374779600
Variant Present in the following documents:
- 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2