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Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

The ClinVar database is a useful tool for patients and physicians to view variant interpretations submitted by clinical and nonclinical labs. However, variants of uncertain significance (VUS) in ClinVar can pose a significant burden on patients. If possible, it is important to resolve discrepancies...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2018
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6169827/
https://ncbi.nlm.nih.gov/pubmed/29945942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002675
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