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. [electronic resource]

By: Contributor(s): Producer: 20170925Description: 2256-2268 p. digitalISSN:
  • 1460-2083
Subject(s): Online resources: In: Human molecular genetics vol. 25
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

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