IDUA c.1147C>G ;(p.R383G)
Variant ID: 4-996231-C-G
NM_000203.3(IDUA):c.1147C>G;(p.R383G)
This variant was identified in 1 publication
Variant-Specific Resource Links:
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: R383G; rs751396984
Variant Present in the following documents:
- Main text
- 13023_2017_Article_678.pdf