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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database

26 Feb 2021

Abstract excerpt

BACKGROUND: The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database. In addition, clinical severity for causative genotypes was assessed based on currently available locus-specific databases (LSDBs), which contain information on both genotype and clinical severity. METHODS: variant database, and the Pompe Registry....

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PMID: 33717985
DOI: 10.1016/j.ymgmr.2021.100734

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