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IDUA c.574del ;(p.S192Pfs*2)
Variant ID: 4-995336-CT-C
NM_000203.3(
IDUA
):c.574del;(p.S192Pfs*2)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 574delT
PubMed Link:
28676128
Variant Present in the following documents:
Main text
13023_2017_Article_678.pdf
View BVdb publication page