A functional assay to classify ZBTB24 missense variants of unknown significance

Increasing use of next‐generation sequencing technologies in clinical diagnostics allows large‐scale discovery of genetic variants, but also results in frequent identification of variants of unknown significance (VUSs). Their classification into disease‐causing and neutral variants is often hampered...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Wu, Haoyu, Vonk, Kelly K. D., van der Maarel, Silvère M., Santen, Gijs W.E., Daxinger, Lucia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Brief Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6771626/
https://ncbi.nlm.nih.gov/pubmed/31066130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23786
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