BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation. [electronic resource]
- Human molecular genetics 05 2016
- 1934-1945 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
1460-2083
10.1093/hmg/ddw066 doi
Alternative Splicing--genetics Animals BRCA2 Protein--genetics Breast Neoplasms--genetics Exons--genetics Fanconi Anemia--genetics Gene Knock-In Techniques Genetic Predisposition to Disease Germ-Line Mutation Humans Mice Mutation Pedigree RNA Splice Sites