IDUA c.647T>C ;(p.L216P)

Variant ID: 4-995524-T-C

NM_000203.3(IDUA):c.647T>C;(p.L216P)

This variant was identified in 2 publications

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: rs748589618
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: L216P; rs748589618
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page