Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0440-3.pdf
Reference49 articles.
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4. Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, et al. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017;19:1096–104.
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