HIGHLIGHTS
- who: Lauren M. Chunn from the (UNIVERSITY) have published the article: Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases, in the Journal: (JOURNAL) of May/23,/2022
- what: The authors improve on the previous estimate by performing a more comprehensive literature review using Mastermind to identify additional variants as well as supporting evidence, by using clinical standard variant interpretation to assess the level of evidence supporting the inclusion of variants in the estimate, and by using a larger population database . This study had several methodological differences including the use . . .
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