Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Research output: Contribution to journal › Journal article › Research › peer-review
| Original language | English |
|---|---|
| Journal | Human Molecular Genetics |
| Volume | 25 |
| Issue number | 11 |
| Pages (from-to) | 2256-2268 |
| ISSN | 0964-6906 |
| DOIs | |
| Publication status | Published - 2016 |
ID: 176831209