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Bypass of Premature Stop Codons and Generation of Functional BRCA2 by Exon Skipping
A pathogenic mutation in BRCA2 significantly increases the risk of breast and ovarian cancers making it imperative to examine the functional consequences of variants of uncertain clinical significance. Variants that are predicted to result in a truncated protein are unambiguously classified as patho...
Gardado en:
| Publicado en: | J Hum Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ https://ncbi.nlm.nih.gov/pubmed/32393813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0768-0 |
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