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
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Originalsprog | Engelsk |
---|---|
Tidsskrift | Human Molecular Genetics |
Vol/bind | 25 |
Udgave nummer | 11 |
Sider (fra-til) | 2256-2268 |
ISSN | 0964-6906 |
DOI | |
Status | Udgivet - 2016 |
ID: 176831209