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ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Hum Mutat. 2022 Dec;43(12):1673-1705. doi: 10.1002/humu.24477. Epub 2022 Oct 8.
Hum Mutat. 2022.
PMID: 36150100
Review.
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Chunn LM, Bissonnette J, Heinrich SV, Mercurio SA, Kiel MJ, Rutsch F, Ferreira CR.
Chunn LM, et al. Among authors: mercurio sa.
Orphanet J Rare Dis. 2022 Dec 2;17(1):421. doi: 10.1186/s13023-022-02577-2.
Orphanet J Rare Dis. 2022.
PMID: 36461014
Free PMC article.
Review.
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