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: rs757706461

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

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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: P183S; rs757706461

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

View BVdb publication page