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Article

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

2 Dec 2022

Abstract excerpt

BACKGROUND: ENPP1 Deficiency-caused by biallelic variants in ENPP1-leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive Hypophosphatemic Rickets type 2, ARHR2). A prior study using the Exome Aggregation Consortium (ExAC)-a database of exomes obtained from approximately 60,000...

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PMID: 36461014
DOI: 10.1186/s13023-022-02577-2

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Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databasesPMID 36461014Read ↗

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