טוען...
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
PURPOSE: Current interpretation guidelines for germline variants in high-risk cancer susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense variants and variants in the canonical splice site sequences ofBRCA2, to be associated with high cancer risk. However, some v...
שמור ב:
| הוצא לאור ב: | Genet Med |
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| Main Authors: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group US
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7394881/ https://ncbi.nlm.nih.gov/pubmed/32398771 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0814-5 |
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