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Improved, ACMG-Compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants

Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense va...

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Foilsithe in:Hum Mutat
Main Authors: Fortuno, Cristina, James, Paul A, Young, Erin L., Feng, Bing, Olivier, Magali, Pesaran, Tina, Tavtigian, Sean V., Spurdle, Amanda B.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2018
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6043381/
https://ncbi.nlm.nih.gov/pubmed/29775997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23553
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