Á lódáil...
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 |
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| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
2018
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| 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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