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Article

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet journal of rare diseases - 18 Nov 2020

Borges Pâmella, Pasqualim Gabriela, Giugliani Roberto, Vairo Filippo, Matte Ursula

Abstract excerpt

BACKGROUND: In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-causing variants on each gene related to MPS I to IX (except MPS II). METHODS: We evaluated the canonical transcripts and...

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Identifiers

PMID: 33208168
DOI: 10.1186/s13023-020-01608-0
PMCID: PMC7672855

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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