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When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 mutations appears to be accurate but there remain some questions about the missense vari...
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| Vydáno v: | Hered Cancer Clin Pract |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4754916/ https://ncbi.nlm.nih.gov/pubmed/26884819 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13053-015-0045-y |
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