IDUA c.355G>A ;(p.D119N)
Variant ID: 4-994455-G-A
NM_000203.3(IDUA):c.355G>A;(p.D119N)
This variant was identified in 3 publications
Variant-Specific Resource Links:
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: rs765255638
Variant Present in the following documents:
- 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: IDUA: D119N
Variant Present in the following documents:
- 13073_2019_654_MOESM2_ESM.xlsx, sheet 32
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: rs765255638
Variant Present in the following documents:
- Main text
- 13023_2017_Article_678.pdf