IDUA c.897G>T ;(p.E299D)
Variant ID: 4-995874-G-T
NM_000203.3(IDUA):c.897G>T;(p.E299D)
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: E299D; rs774139207
Variant Present in the following documents:
- Main text
- 13023_2017_Article_678.pdf