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

View GRCh38 version.




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
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page