IDUA c.1262T>C ;(p.L421P)

Variant ID: 4-996592-T-C

NM_000203.3(IDUA):c.1262T>C;(p.L421P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: L421P
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page